A39D (p.Ala39Asp) variant of KRT4 (Keratin, type II cytoskeletal 4)
A39D (p.Ala39Asp) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- gnomAD rs1195793164
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.35
- CADD 16.40
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available