G722E (p.Gly722Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G722E (p.Gly722Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of X-linked 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.
G722E (p.Gly722Glu) variant details
- p.Gly722Glu
- rs104886163
- ClinGen CA258630
- ClinVar RCV000021373
- UniProt VAR 011250
- Conflicting interpretations
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.99
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.94
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Population evidence available
- Structural context available
- Cited in: Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. (PMID 11223851)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)