A111S (p.Ala111Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
A111S (p.Ala111Ser) in KRT5 (Keratin, type II cytoskeletal 5) 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 and structural context.
A111S (p.Ala111Ser) variant details
- p.Ala111Ser
- gnomAD rs1245745607
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.15
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available