G58C (p.Gly58Cys) variant of KRT5 (Keratin, type II cytoskeletal 5)
G58C (p.Gly58Cys) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. 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.
G58C (p.Gly58Cys) variant details
- p.Gly58Cys
- TOPMed rs1938691631
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.52
- CADD 23.00
- PolyPhen-2 0.56
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available