G133E (p.Gly133Glu) variant of KRT3 (Keratin, type II cytoskeletal 3)
G133E (p.Gly133Glu) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Corneal dystrophy, Meesmann, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G133E (p.Gly133Glu) variant details
- p.Gly133Glu
- ExAC rs748539153
- TOPMed rs748539153
- gnomAD rs748539153
- Uncertain significance
- Corneal dystrophy, Meesmann, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.37
- CADD 17.90
- PolyPhen-2 0.95
- SIFT 0.08
- ClinVar: Uncertain significance (Corneal dystrophy, Meesmann, 2)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available