A32E (p.Ala32Glu) variant of KRT18 (Keratin, type I cytoskeletal 18)
A32E (p.Ala32Glu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A32E (p.Ala32Glu) variant details
- p.Ala32Glu
- gnomAD 12-52949268-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.53
- CADD 24.50
- PolyPhen-2 0.27
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available