G78R (p.Gly78Arg) variant of KRT2 (P35908)
G78R (p.Gly78Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G78R (p.Gly78Arg) variant details
- p.Gly78Arg
- 1000Genomes rs200608478
- ExAC rs200608478
- TOPMed rs200608478
- gnomAD rs200608478
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.27
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available