G78A (p.Gly78Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
G78A (p.Gly78Ala) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G78A (p.Gly78Ala) variant details
- p.Gly78Ala
- Ensembl rs2121257837
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- CADD 12.10
- PolyPhen-2 0.06
- SIFT 0.23
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available