G334D (p.Gly334Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G334D (p.Gly334Asp) 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 0.97 / 1. The record also includes published literature and structural context.
G334D (p.Gly334Asp) variant details
- p.Gly334Asp
- rs104886093
- ClinGen CA413928933
- ClinVar RCV001542720
- ClinVar RCV002032540
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)