G265R (p.Gly265Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G265R (p.Gly265Arg) 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 0.87 / 1. The record also includes population frequency data and structural context.
G265R (p.Gly265Arg) variant details
- p.Gly265Arg
- rs374787000
- ClinGen CA66622047
- ClinVar RCV002267251
- ESP rs374787000
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant Alport syndrome; Alport syndrome 3b, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.08
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant Alport syndrome; Alport syndrom)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available