G107E (p.Gly107Glu) variant of KRT4 (Keratin, type II cytoskeletal 4)
G107E (p.Gly107Glu) in KRT4 (Keratin, type II cytoskeletal 4) 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 0.74 / 1. The record also includes population frequency data and structural context.
G107E (p.Gly107Glu) variant details
- p.Gly107Glu
- rs904956619
- NCI-TCGA Cosmic COSV9954
- TOPMed rs904956619
- gnomAD rs904956619
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.71
- AlphaMissense 0.28
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.80
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available