A116D (p.Ala116Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A116D (p.Ala116Asp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A116D (p.Ala116Asp) variant details
- p.Ala116Asp
- gnomAD rs1470623232
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.53
- CADD 19.50
- PolyPhen-2 0.29
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available