S36A (p.Ser36Ala) variant of KRT8 (Keratin, type II cytoskeletal 8)
S36A (p.Ser36Ala) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S36A (p.Ser36Ala) variant details
- p.Ser36Ala
- gnomAD rs1197887525
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available