G521D (p.Gly521Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G521D (p.Gly521Asp) 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 X-linked Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G521D (p.Gly521Asp) variant details
- p.Gly521Asp
- rs104886122
- ClinGen CA258493
- ClinVar RCV001953716
- ClinVar RCV003236591
- Pathogenic
- X-linked Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.92
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (X-linked Alport syndrome; not provided)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)