G796E (p.Gly796Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G796E (p.Gly796Glu) 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 Nephrotic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G796E (p.Gly796Glu) variant details
- p.Gly796Glu
- rs1569495819
- ClinGen CA413849220
- ClinVar RCV001328192
- Ensembl rs1569495819
- Pathogenic
- Nephrotic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Nephrotic syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available