G230V (p.Gly230Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G230V (p.Gly230Val) 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 Alport syndrome; Hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G230V (p.Gly230Val) variant details
- p.Gly230Val
- gnomAD rs1387958698
- Pathogenic/Likely pathogenic
- Alport syndrome; Hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.90
- MetaLR 0.96
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; Hematuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available