G67E (p.Gly67Glu) variant of KRT2 (P35908)
G67E (p.Gly67Glu) 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 0.54 / 1. The record also includes population frequency data and structural context.
G67E (p.Gly67Glu) variant details
- p.Gly67Glu
- rs1319518447
- NCI-TCGA Cosmic COSV5901
- TOPMed rs1319518447
- gnomAD rs1319518447
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.46
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available