G13E (p.Gly13Glu) variant of KRT2 (P35908)
G13E (p.Gly13Glu) 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 0.50 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- rs1337082248
- NCI-TCGA Cosmic COSV5901
- TOPMed rs1337082248
- gnomAD rs1337082248
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.41
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available