Y11F (p.Tyr11Phe) variant of KRT1 (Keratin, type II cytoskeletal 1)
Y11F (p.Tyr11Phe) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Y11F (p.Tyr11Phe) variant details
- p.Tyr11Phe
- gnomAD rs1233125189
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.14
- CADD 9.12
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available