G276S (p.Gly276Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G276S (p.Gly276Ser) 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 not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G276S (p.Gly276Ser) variant details
- p.Gly276Ser
- rs1314371806
- ClinGen CA413925864
- ClinVar RCV002814699
- ClinVar RCV006559681
- Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.91
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely pathogenic (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)