G657D (p.Gly657Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G657D (p.Gly657Asp) 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 0.90 / 1. The record also includes structural context.
G657D (p.Gly657Asp) variant details
- p.Gly657Asp
- rs755233004
- ClinGen CA350845124
- ClinVar RCV001251503
- ExAC rs755233004
- Likely pathogenic
- Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available