G811V (p.Gly811Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G811V (p.Gly811Val) 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 0.95 / 1. The record also includes published literature and structural context.
G811V (p.Gly811Val) variant details
- p.Gly811Val
- rs104886183
- ClinGen CA258685
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10008
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.80
- MetaLR 0.99
- MetaSVM 0.99
- 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: Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. (PMID 8940267)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)