A39T (p.Ala39Thr) variant of KRT4 (Keratin, type II cytoskeletal 4)
A39T (p.Ala39Thr) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- ExAC rs769231045
- TOPMed rs769231045
- gnomAD rs769231045
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.20
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available