A33A (p.Ala33Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
A33A (p.Ala33Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- gnomAD 12-52949272-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 15.90
- Population evidence available
- Structural context available
- Literature evidence available