A38T (p.Ala38Thr) variant of KRT3 (Keratin, type II cytoskeletal 3)
A38T (p.Ala38Thr) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- Ensembl rs903704375
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.18
- CADD 6.03
- PolyPhen-2 0.09
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available