G834V (p.Gly834Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G834V (p.Gly834Val) 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 0.97 / 1. The record also includes published literature and structural context.
G834V (p.Gly834Val) variant details
- p.Gly834Val
- rs2147850123
- ClinGen CA413850235
- ClinVar RCV001957123
- ClinVar RCV002503623
- Pathogenic
- X-linked Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (X-linked Alport syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)