G106R (p.Gly106Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G106R (p.Gly106Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G106R (p.Gly106Arg) variant details
- p.Gly106Arg
- gnomAD rs1355415018
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.45
- CADD 11.50
- PolyPhen-2 0.85
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available