G115A (p.Gly115Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
G115A (p.Gly115Ala) in COL4A3 (Collagen alpha-3(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 dominant Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G115A (p.Gly115Ala) variant details
- p.Gly115Ala
- rs1408412826
- ClinGen CA350861652
- ClinVar RCV002611793
- ClinVar RCV005028274
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.84
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)