G46E (p.Gly46Glu) variant of KRT4 (Keratin, type II cytoskeletal 4)
G46E (p.Gly46Glu) 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 0.59 / 1. The record also includes population frequency data and structural context.
G46E (p.Gly46Glu) variant details
- p.Gly46Glu
- rs1221027800
- NCI-TCGA Cosmic COSV5340
- gnomAD rs1221027800
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.58
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available