G458V (p.Gly458Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G458V (p.Gly458Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
G458V (p.Gly458Val) variant details
- p.Gly458Val
- rs2125981183
- ClinGen CA350870156
- ClinVar RCV004555342
- Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- MutPred 0.81
- ClinVar: Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)