G116R (p.Gly116Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
G116R (p.Gly116Arg) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- TOPMed rs1939625025
- gnomAD rs1939625025
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.34
- CADD 19.50
- PolyPhen-2 0.16
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available