G533D (p.Gly533Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G533D (p.Gly533Asp) 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; Hematuria. 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.
G533D (p.Gly533Asp) variant details
- p.Gly533Asp
- rs1553669704
- ClinGen CA350849686
- ClinVar RCV000672440
- ClinVar RCV005019147
- Pathogenic/Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)