A116T (p.Ala116Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A116T (p.Ala116Thr) 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.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- Ensembl rs2120411521
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.29
- CADD 14.60
- PolyPhen-2 0.20
- SIFT 0.27
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available