C21Y (p.Cys21Tyr) variant of KRT13 (Keratin, type I cytoskeletal 13)
C21Y (p.Cys21Tyr) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- ExAC rs771244979
- TOPMed rs771244979
- gnomAD rs771244979
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.37
- CADD 22.30
- PolyPhen-2 0.15
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available