G909E (p.Gly909Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G909E (p.Gly909Glu) 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 Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G909E (p.Gly909Glu) variant details
- p.Gly909Glu
- rs2150221180
- ClinGen CA350840386
- ClinVar RCV001391123
- Ensembl rs2150221180
- Likely pathogenic
- Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.87
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)