G1015E (p.Gly1015Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1015E (p.Gly1015Glu) in COL4A3 (Collagen alpha-3(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; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G1015E (p.Gly1015Glu) variant details
- p.Gly1015Glu
- rs121912826
- ClinGen CA127228
- ClinVar RCV000019041
- ClinVar RCV001281227
- Pathogenic/Likely pathogenic
- not provided; Benign familial hematuria; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Benign familial hematuria; Autosomal dominant Alpo)
- EBI: Pathogenic (in BFH2)
- UniProt: Pathogenic (in BFH2)
- Structural context available
- Cited in: Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria. (PMID 11961012)
- Cited in: Alport Syndrome. (PMID 20301386)