R8G (p.Arg8Gly) variant of COL4A3 (Collagen alpha-3(IV) chain)
R8G (p.Arg8Gly) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- TOPMed rs1051432500
- gnomAD rs1051432500
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.25
- CADD 5.35
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available