G183D (p.Gly183Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G183D (p.Gly183Asp) 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 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.
G183D (p.Gly183Asp) variant details
- p.Gly183Asp
- rs104886059
- ClinGen CA413921892
- ClinVar RCV002250924
- Ensembl rs104886059
- Conflicting interpretations
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (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)