G1069E (p.Gly1069Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1069E (p.Gly1069Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G1069E (p.Gly1069Glu) variant details
- p.Gly1069Glu
- rs2150172344
- ClinGen CA350838805
- ClinVar RCV001958181
- ClinVar RCV005232731
- Conflicting interpretations
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.89
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Conflicting classifications of pathogenicity (Hematuria, benign familial, 1; Autosomal recessive Alport syndro)
- 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)