G230D (p.Gly230Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G230D (p.Gly230Asp) 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 0.94 / 1. The record also includes published literature and structural context.
G230D (p.Gly230Asp) variant details
- p.Gly230Asp
- rs281874763
- ClinGen CA258315
- ClinVar RCV001987576
- ClinVar RCV005042570
- Pathogenic
- X-linked Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (X-linked Alport syndrome; not provided)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)