Y58C (p.Tyr58Cys) variant of KRT3 (Keratin, type II cytoskeletal 3)
Y58C (p.Tyr58Cys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y58C (p.Tyr58Cys) variant details
- p.Tyr58Cys
- TOPMed rs1422118288
- gnomAD rs1422118288
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.50
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available