Y43C (p.Tyr43Cys) variant of KRT3 (Keratin, type II cytoskeletal 3)
Y43C (p.Tyr43Cys) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- 1000Genomes rs200847081
- ESP rs200847081
- ExAC rs200847081
- TOPMed rs200847081
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.19
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available