G650D (p.Gly650Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G650D (p.Gly650Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of X-linked Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G650D (p.Gly650Asp) variant details
- p.Gly650Asp
- rs2066625021
- ClinGen CA413846631
- ClinVar RCV001208762
- ClinVar RCV004789475
- Pathogenic/Likely pathogenic
- X-linked Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (X-linked Alport syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)