G305V (p.Gly305Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
G305V (p.Gly305Val) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G305V (p.Gly305Val) variant details
- p.Gly305Val
- gnomAD rs1469837124
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.97
- CADD 30.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available