G240E (p.Gly240Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G240E (p.Gly240Glu) 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 0.86 / 1. The record also includes structural context.
G240E (p.Gly240Glu) variant details
- p.Gly240Glu
- rs1559643753
- ClinGen CA350859229
- ClinVar RCV000785885
- Ensembl rs1559643753
- Likely pathogenic
- Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available