G114R (p.Gly114Arg) variant of KRT2 (P35908)
G114R (p.Gly114Arg) in KRT2 (P35908) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G114R (p.Gly114Arg) variant details
- p.Gly114Arg
- 1000Genomes rs76412202
- ESP rs76412202
- ExAC rs76412202
- TOPMed rs76412202
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.52
- CADD 15.80
- PolyPhen-2 0.99
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available