Y12C (p.Tyr12Cys) variant of KRT13 (Keratin, type I cytoskeletal 13)
Y12C (p.Tyr12Cys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- Ensembl rs1597766117
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.29
- CADD 24.40
- PolyPhen-2 0.75
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available