G52E (p.Gly52Glu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G52E (p.Gly52Glu) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.45 / 1. The record also includes population frequency data and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- rs1190770992
- NCI-TCGA Cosmic COSV5288
- NCI-TCGA Cosmic COSV9936
- gnomAD rs1190770992
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.51
- CADD 16.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available