G116D (p.Gly116Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G116D (p.Gly116Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G116D (p.Gly116Asp) variant details
- p.Gly116Asp
- TOPMed rs1941562241
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.51
- CADD 14.80
- PolyPhen-2 0.28
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available