G869R (p.Gly869Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G869R (p.Gly869Arg) 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. 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.
G869R (p.Gly869Arg) variant details
- p.Gly869Arg
- rs104886189
- ClinGen CA258720
- NCI-TCGA Cosmic COSV6036
- cosmic curated COSV60360
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.99
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. (PMID 7599631)
- Cited in: High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA… (PMID 9848783)