A38G (p.Ala38Gly) variant of KRT3 (Keratin, type II cytoskeletal 3)
A38G (p.Ala38Gly) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- ESP rs374910086
- ExAC rs374910086
- TOPMed rs374910086
- gnomAD rs374910086
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.11
- CADD 5.35
- PolyPhen-2 0.09
- SIFT 0.44
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available