R5P (p.Arg5Pro) variant of RAI1 (Retinoic acid-induced protein 1)
R5P (p.Arg5Pro) 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 0.66 / 1. The record also includes population frequency data and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- ExAC rs781312985
- TOPMed rs781312985
- gnomAD rs781312985
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available