G955E (p.Gly955Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G955E (p.Gly955Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G955E (p.Gly955Glu) variant details
- p.Gly955Glu
- rs2106175500
- ClinGen CA350852482
- ClinVar RCV004555411
- Ensembl rs2106175500
- Conflicting interpretations
- Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)