G314D (p.Gly314Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G314D (p.Gly314Asp) 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 Benign familial hematuria; Autosomal recessive Alport syndrome; Hematuria, benig. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G314D (p.Gly314Asp) variant details
- p.Gly314Asp
- rs1005389790
- ClinGen CA66561030
- ClinVar RCV005025754
- ClinVar RCV006255386
- Pathogenic/Likely pathogenic
- Benign familial hematuria; Autosomal recessive Alport syndrome; Hematuria, benig
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.99
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Benign familial hematuria; Autosomal recessive Alport syndrome;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)