G28D (p.Gly28Asp) variant of KRT4 (Keratin, type II cytoskeletal 4)
G28D (p.Gly28Asp) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- TOPMed rs1380634680
- gnomAD rs1380634680
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.18
- CADD 0.59
- PolyPhen-2 0.04
- SIFT 0.26
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available