Variants | Amino acid change | Polyphen-2a | SIFTb | PROVEANc | Mutation Tasterd | SNPs&GOe | FATHMM-MKLf | gnomADg | ExACh | 1000 Genomesi | ESP6500j |
---|---|---|---|---|---|---|---|---|---|---|---|
c.2525A > C | p. Q842P | Probably damaging (0.996) | Damaging (0.002) | Deleterious (− 3.21) | Disease causing (0.999) | Neutral (0.247) | Damaging (0.983) | 0.00001634 | 0.0000084 | 0 | 0 |