G631V (p.Gly631Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G631V (p.Gly631Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of COL4A3-related disorder; Alport syndrome 3b, autosomal recessive; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes population frequency data, published literature, and structural context.
G631V (p.Gly631Val) variant details
- p.Gly631Val
- rs1315862965
- ClinGen CA350845010
- ClinVar RCV001869019
- ClinVar RCV003396315
- Pathogenic/Likely pathogenic
- COL4A3-related disorder; Alport syndrome 3b, autosomal recessive; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (COL4A3-related disorder; Alport syndrome 3b, autosomal recessive)
- EBI: Pathogenic (in ATS3B)
- UniProt: Pathogenic (in ATS3B)
- Population evidence available
- Structural context available
- Cited in: Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis. (PMID 29946535)
- Cited in: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. (PMID 11134255)