G80R (p.Gly80Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G80R (p.Gly80Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. 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.
G80R (p.Gly80Arg) variant details
- p.Gly80Arg
- TOPMed rs1329673922
- gnomAD rs1329673922
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.92
- CADD 25.10
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available