G40E (p.Gly40Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G40E (p.Gly40Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- ESP rs370128179
- ExAC rs370128179
- TOPMed rs370128179
- gnomAD rs370128179
- Uncertain significance
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.32
- CADD 19.00
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available