G409D (p.Gly409Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G409D (p.Gly409Asp) 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 Inborn genetic diseases; not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G409D (p.Gly409Asp) variant details
- p.Gly409Asp
- rs104886101
- ClinGen CA258437
- ClinVar RCV001328297
- ClinVar RCV002513158
- Pathogenic
- Inborn genetic diseases; not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. (PMID 8651296)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)