G83E (p.Gly83Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G83E (p.Gly83Glu) 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 Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G83E (p.Gly83Glu) variant details
- p.Gly83Glu
- rs1559677316
- ClinGen CA350863377
- NCI-TCGA Cosmic COSV1003
- NCI-TCGA Cosmic COSV6163
- Conflicting interpretations
- Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Conflicting classifications of pathogenicity (Alport syndrome; Autosomal recessive Alport syndrome; Hematuria,)
- 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)