G332V (p.Gly332Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G332V (p.Gly332Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G332V (p.Gly332Val) variant details
- p.Gly332Val
- rs2060521579
- ClinGen CA350855934
- ClinVar RCV001328131
- Ensembl rs2060521579
- Likely pathogenic
- Nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.71
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Nephrotic syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available