G91R (p.Gly91Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G91R (p.Gly91Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G91R (p.Gly91Arg) variant details
- p.Gly91Arg
- TOPMed rs1457523986
- gnomAD rs1457523986
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.57
- CADD 18.50
- PolyPhen-2 0.80
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available