G318D (p.Gly318Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G318D (p.Gly318Asp) 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 Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G318D (p.Gly318Asp) variant details
- p.Gly318Asp
- rs1559872489
- ClinGen CA350867215
- ClinVar RCV000681798
- ClinVar RCV005004360
- Likely pathogenic
- Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal re
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Hematuria, benign familial, 2; Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)