G19R (p.Gly19Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
G19R (p.Gly19Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- ExAC rs758748023
- TOPMed rs758748023
- gnomAD rs758748023
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.36
- CADD 10.10
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available