G109A (p.Gly109Ala) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G109A (p.Gly109Ala) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G109A (p.Gly109Ala) variant details
- p.Gly109Ala
- ExAC rs769880941
- TOPMed rs769880941
- gnomAD rs769880941
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.38
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available