Y36C (p.Tyr36Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
Y36C (p.Tyr36Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y36C (p.Tyr36Cys) variant details
- p.Tyr36Cys
- TOPMed rs891346528
- gnomAD rs891346528
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.62
- CADD 24.20
- PolyPhen-2 0.04
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available