G772V (p.Gly772Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G772V (p.Gly772Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; X-linked Alport syndrome; Isolated macular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G772V (p.Gly772Val) variant details
- p.Gly772Val
- rs104886173
- ClinGen CA413848967
- ClinVar RCV000995999
- ClinVar RCV001199473
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome; Isolated macular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked Alport syndrome; Isolated macular dystrop)
- 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)