G116V (p.Gly116Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
G116V (p.Gly116Val) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.56 / 1. The record also includes population frequency data and structural context.
G116V (p.Gly116Val) variant details
- p.Gly116Val
- ExAC rs746202552
- TOPMed rs746202552
- gnomAD rs746202552
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.47
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available