G117S (p.Gly117Ser) variant of KRT2 (P35908)
G117S (p.Gly117Ser) in KRT2 (P35908) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G117S (p.Gly117Ser) variant details
- p.Gly117Ser
- 1000Genomes rs150026966
- ESP rs150026966
- ExAC rs150026966
- TOPMed rs150026966
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.13
- CADD 0.62
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Benign (not provided)
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available