G88C (p.Gly88Cys) variant of KRT5 (Keratin, type II cytoskeletal 5)
G88C (p.Gly88Cys) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G88C (p.Gly88Cys) variant details
- p.Gly88Cys
- ExAC rs770910564
- TOPMed rs770910564
- gnomAD rs770910564
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.16
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available