G44R (p.Gly44Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
G44R (p.Gly44Arg) in KRT9 (Keratin, type I cytoskeletal 9) 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.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- ExAC rs751689762
- TOPMed rs751689762
- gnomAD rs751689762
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.50
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available