G292R (p.Gly292Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G292R (p.Gly292Arg) 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 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.
G292R (p.Gly292Arg) variant details
- p.Gly292Arg
- rs104886073
- ClinGen CA258341
- ClinVar RCV001951601
- ClinVar RCV002497893
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. (PMID 11223851)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)