G475A (p.Gly475Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
G475A (p.Gly475Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G475A (p.Gly475Ala) variant details
- p.Gly475Ala
- rs1559594442
- ClinGen CA350850487
- ClinVar RCV001280848
- ClinVar RCV003442821
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.87
- AlphaMissense 0.42
- MetaLR 0.92
- MetaSVM 1.04
- CADD 24.60
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Benign fam)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)