A3T (p.Ala3Thr) variant of KRT4 (Keratin, type II cytoskeletal 4)
A3T (p.Ala3Thr) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD rs1315790135
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.14
- CADD 4.54
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available