G23E (p.Gly23Glu) variant of KRT1 (Keratin, type II cytoskeletal 1)
G23E (p.Gly23Glu) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.49 / 1. The record also includes population frequency data and structural context.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- NCI-TCGA TCGA novel
- Ensembl rs1941567191
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.38
- CADD 21.30
- PolyPhen-2 0.92
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available