A116T (p.Ala116Thr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A116T (p.Ala116Thr) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- gnomAD rs1243559179
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.35
- CADD 14.50
- PolyPhen-2 0.04
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available