T52A (p.Thr52Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
T52A (p.Thr52Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- gnomAD 12-52949327-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.17
- CADD 8.07
- Population evidence available
- Structural context available
- Literature evidence available