G114S (p.Gly114Ser) variant of KRT2 (P35908)
G114S (p.Gly114Ser) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G114S (p.Gly114Ser) variant details
- p.Gly114Ser
- rs76412202
- ClinGen CA6585859
- ClinVar RCV000888153
- ClinVar RCV003955942
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.39
- CADD 15.40
- PolyPhen-2 0.95
- SIFT 0.11
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available