G594D (p.Gly594Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G594D (p.Gly594Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; X-linked Alport syndrome. 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.
G594D (p.Gly594Asp) variant details
- p.Gly594Asp
- rs1569494267
- ClinVar RCV005041491
- ClinVar RCV005105341
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.05
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)