F54F (p.Phe54Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
F54F (p.Phe54Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F54F (p.Phe54Phe) variant details
- p.Phe54Phe
- gnomAD 12-52949335-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 10.10
- Population evidence available
- Structural context available
- Literature evidence available