A132S (p.Ala132Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
A132S (p.Ala132Ser) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
A132S (p.Ala132Ser) variant details
- p.Ala132Ser
- gnomAD rs1259134501
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 5.79
- PolyPhen-2 0.18
- SIFT 0.23
- Most common in the 1KG:CLM population (allele frequency 0.0053)