G273E (p.Gly273Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G273E (p.Gly273Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of COL4A5-related disorder; not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G273E (p.Gly273Glu) variant details
- p.Gly273Glu
- rs2147776175
- ClinGen CA413925819
- ClinVar RCV001377840
- ClinVar RCV002476716
- Likely pathogenic
- COL4A5-related disorder; not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (COL4A5-related disorder; not provided; X-linked Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)