G382A (p.Gly382Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
G382A (p.Gly382Ala) 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; Hematuria, benign familial, 1; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G382A (p.Gly382Ala) variant details
- p.Gly382Ala
- rs751952236
- ClinGen CA2145268
- ClinVar RCV001588282
- ClinVar RCV005005264
- Pathogenic/Likely pathogenic
- not provided; Hematuria, benign familial, 1; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 1.00
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hematuria, benign familial, 1; Autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)