S22C (p.Ser22Cys) variant of KRT8 (Keratin, type II cytoskeletal 8)
S22C (p.Ser22Cys) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- ExAC rs767456684
- gnomAD rs767456684
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 27.70
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)