G123E (p.Gly123Glu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G123E (p.Gly123Glu) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G123E (p.Gly123Glu) variant details
- p.Gly123Glu
- ExAC rs767856687
- TOPMed rs767856687
- gnomAD rs767856687
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.71
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available