G527C (p.Gly527Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
G527C (p.Gly527Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided. 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.
G527C (p.Gly527Cys) variant details
- p.Gly527Cys
- rs779930511
- ClinGen CA2145127
- ClinVar RCV000670337
- ClinVar RCV003558507
- Pathogenic/Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.99
- AlphaMissense 0.56
- MetaLR 0.99
- MetaSVM 1.00
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic
- UniProt: 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)