G61E (p.Gly61Glu) variant of KRT14 (Keratin, type I cytoskeletal 14)
G61E (p.Gly61Glu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KRT14-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G61E (p.Gly61Glu) variant details
- p.Gly61Glu
- rs1907543032
- ClinGen CA399483134
- NCI-TCGA Cosmic COSV5142
- NCI-TCGA Cosmic COSV9906
- Uncertain significance
- KRT14-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.41
- CADD 13.50
- PolyPhen-2 0.26
- SIFT 0.16
- ClinVar: Uncertain significance (KRT14-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available