A39T (p.Ala39Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
A39T (p.Ala39Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD 12-52949288-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.53
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available