Y36F (p.Tyr36Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
Y36F (p.Tyr36Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense 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.
Y36F (p.Tyr36Phe) variant details
- p.Tyr36Phe
- gnomAD 12-52949280-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.58
- CADD 25.10
- PolyPhen-2 0.42
- SIFT 0.04
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available