G97E (p.Gly97Glu) variant of KRT2 (P35908)
G97E (p.Gly97Glu) in KRT2 (P35908) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ichthyosis bullosa of Siemens. 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.
G97E (p.Gly97Glu) variant details
- p.Gly97Glu
- rs1941256831
- ClinGen CA384943997
- ClinVar RCV001111992
- Ensembl rs1941256831
- Uncertain significance
- Ichthyosis bullosa of Siemens
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.56
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (Ichthyosis bullosa of Siemens)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available