A39S (p.Ala39Ser) variant of KRT4 (Keratin, type II cytoskeletal 4)
A39S (p.Ala39Ser) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- ExAC rs769231045
- TOPMed rs769231045
- gnomAD rs769231045
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.07
- CADD 6.09
- PolyPhen-2 0.04
- SIFT 0.47
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available