G100D (p.Gly100Asp) variant of KRT4 (Keratin, type II cytoskeletal 4)
G100D (p.Gly100Asp) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G100D (p.Gly100Asp) variant details
- p.Gly100Asp
- ExAC rs780291229
- gnomAD rs780291229
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.72
- CADD 23.40
- PolyPhen-2 0.75
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available