G230D (p.Gly230Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G230D (p.Gly230Asp) 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; Alport syndrome; Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G230D (p.Gly230Asp) variant details
- p.Gly230Asp
- gnomAD rs1387958698
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.97
- MetaLR 0.96
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome; Autosomal dominant Alport syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available