G54R (p.Gly54Arg) variant of KRT2 (P35908)
G54R (p.Gly54Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- ExAC rs749739311
- TOPMed rs749739311
- gnomAD rs749739311
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.52
- CADD 16.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available