G27E (p.Gly27Glu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G27E (p.Gly27Glu) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.35 / 1. The record also includes population frequency data and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs759307145
- NCI-TCGA Cosmic COSV5810
- ExAC rs759307145
- TOPMed rs759307145
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.41
- CADD 18.00
- PolyPhen-2 0.19
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available