G957R (p.Gly957Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G957R (p.Gly957Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G957R (p.Gly957Arg) variant details
- p.Gly957Arg
- rs1402343399
- ClinGen CA350839552
- ClinVar RCV005023265
- ClinVar RCV005095218
- Pathogenic/Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)