G795R (p.Gly795Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G795R (p.Gly795Arg) 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 COL4A4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G795R (p.Gly795Arg) variant details
- p.Gly795Arg
- rs779584531
- ClinGen CA350841802
- ClinVar RCV002250776
- ExAC rs779584531
- Likely pathogenic
- COL4A4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.95
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (COL4A4-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available