G475C (p.Gly475Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
G475C (p.Gly475Cys) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G475C (p.Gly475Cys) variant details
- p.Gly475Cys
- rs1371408968
- ClinGen CA350850493
- ClinVar RCV000681862
- gnomAD rs1371408968
- Likely pathogenic
- not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.86
- MetaLR 0.94
- MetaSVM 1.05
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available