G44R (p.Gly44Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G44R (p.Gly44Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- gnomAD rs1339537604
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.47
- CADD 23.60
- PolyPhen-2 0.65
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available