G54D (p.Gly54Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
G54D (p.Gly54Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G54D (p.Gly54Asp) variant details
- p.Gly54Asp
- rs104886043
- ClinGen CA255268
- ClinVar RCV000011211
- UniProt VAR 001914
- Pathogenic
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. (PMID 8825605)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)