A52S (p.Ala52Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
A52S (p.Ala52Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A52S (p.Ala52Ser) variant details
- p.Ala52Ser
- Ensembl rs1938692265
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.10
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available