Y13C (p.Tyr13Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
Y13C (p.Tyr13Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y13C (p.Tyr13Cys) variant details
- p.Tyr13Cys
- Ensembl rs1166470792
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.60
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.06
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available