G478E (p.Gly478Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G478E (p.Gly478Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G478E (p.Gly478Glu) variant details
- p.Gly478Glu
- rs781479400
- ClinGen CA2145168
- ClinVar RCV002651615
- ClinVar RCV005636763
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.81
- MetaLR 0.87
- MetaSVM 0.83
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available