G1216E (p.Gly1216Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1216E (p.Gly1216Glu) 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 Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
G1216E (p.Gly1216Glu) variant details
- p.Gly1216Glu
- rs2149981074
- ClinGen CA350837835
- ClinVar RCV002274277
- Ensembl rs2149981074
- Likely pathogenic
- Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available