G192R (p.Gly192Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G192R (p.Gly192Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G192R (p.Gly192Arg) variant details
- p.Gly192Arg
- rs104886060
- ClinGen CA258274
- ClinVar RCV000021169
- ClinVar RCV005089294
- Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.98
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Population evidence available
- 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)