G985E (p.Gly985Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G985E (p.Gly985Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G985E (p.Gly985Glu) variant details
- p.Gly985Glu
- ExAC rs121912827
- TOPMed rs121912827
- gnomAD rs121912827
- Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.93
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic (in BFH2)
- UniProt: Pathogenic (in BFH2)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available