G1003R (p.Gly1003Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1003R (p.Gly1003Arg) 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 0.80 / 1. The record also includes population frequency data and structural context.
G1003R (p.Gly1003Arg) variant details
- p.Gly1003Arg
- TOPMed rs1214122319
- gnomAD rs1214122319
- Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.85
- CADD 23.60
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available