G149E (p.Gly149Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G149E (p.Gly149Glu) 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 Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G149E (p.Gly149Glu) variant details
- p.Gly149Glu
- rs374815903
- ClinGen CA2145665
- ClinVar RCV003555009
- ESP rs374815903
- Pathogenic/Likely pathogenic
- Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.99
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive Alport syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available