G103E (p.Gly103Glu) variant of KRT2 (P35908)
G103E (p.Gly103Glu) in KRT2 (P35908) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
G103E (p.Gly103Glu) variant details
- p.Gly103Glu
- rs779761041
- 1000Genomes rs779761041
- ExAC rs779761041
- gnomAD rs779761041
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.44
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available