G10C (p.Gly10Cys) variant of KRT4 (Keratin, type II cytoskeletal 4)
G10C (p.Gly10Cys) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- ExAC rs777130445
- gnomAD rs777130445
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.34
- CADD 21.70
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available