G893D (p.Gly893Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G893D (p.Gly893Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked Alport syndrome. 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.
G893D (p.Gly893Asp) variant details
- p.Gly893Asp
- rs397515496
- ClinGen CA413851839
- ClinVar RCV003388768
- ClinVar RCV003679199
- Conflicting interpretations
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.98
- AlphaMissense 0.87
- MetaLR 0.99
- MetaSVM 0.99
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)