G395E (p.Gly395Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G395E (p.Gly395Glu) in COL4A3 (Collagen alpha-3(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; Autosomal dominant Alport syndrome; Alport syndrome 3b, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G395E (p.Gly395Glu) variant details
- p.Gly395Glu
- rs1131691738
- ClinGen CA350868740
- ClinVar RCV000493906
- ClinVar RCV001328055
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant Alport syndrome; Alport syndrome 3b, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant Alport syndrome; Alport syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)