R42G (p.Arg42Gly) variant of RAI1 (Retinoic acid-induced protein 1)
R42G (p.Arg42Gly) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- 1000Genomes rs200677855
- ExAC rs200677855
- TOPMed rs200677855
- gnomAD rs200677855
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- ESM-1b 0.00
- AlphaMissense 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available