G115E (p.Gly115Glu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G115E (p.Gly115Glu) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G115E (p.Gly115Glu) variant details
- p.Gly115Glu
- Ensembl rs2120411545
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.75
- CADD 23.40
- PolyPhen-2 0.73
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available