G117A (p.Gly117Ala) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G117A (p.Gly117Ala) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G117A (p.Gly117Ala) variant details
- p.Gly117Ala
- ExAC rs774088015
- TOPMed rs774088015
- gnomAD rs774088015
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.48
- CADD 16.40
- PolyPhen-2 0.39
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available