G912R (p.Gly912Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G912R (p.Gly912Arg) 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 not provided; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
G912R (p.Gly912Arg) variant details
- p.Gly912Arg
- rs1553640846
- ClinGen CA350840364
- ClinVar RCV001886692
- ClinVar RCV002468648
- Pathogenic/Likely pathogenic
- not provided; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.85
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Benign familial hematuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available