G1228D (p.Gly1228Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1228D (p.Gly1228Asp) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G1228D (p.Gly1228Asp) variant details
- p.Gly1228Asp
- gnomAD rs1183958961
- Pathogenic/Likely pathogenic
- Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal re
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Hematuria, benign familial, 2; Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available