R24S (p.Arg24Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R24S (p.Arg24Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- TOPMed rs1938304618
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.30
- CADD 13.10
- PolyPhen-2 0.14
- SIFT 0.41
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available