G748A (p.Gly748Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
G748A (p.Gly748Ala) 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; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G748A (p.Gly748Ala) variant details
- p.Gly748Ala
- rs2474222643
- ClinGen CA2580065920
- ClinVar RCV002307863
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.68
- MetaLR 0.97
- MetaSVM 1.11
- CADD 23.90
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)