Y13Y (p.Tyr13Tyr) variant of KRT18 (Keratin, type I cytoskeletal 18)
Y13Y (p.Tyr13Tyr) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous 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.
Y13Y (p.Tyr13Tyr) variant details
- p.Tyr13Tyr
- rs761560727
- gnomAD 12-52949212-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 13.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available