R44L (p.Arg44Leu) variant of RAI1 (Retinoic acid-induced protein 1)
R44L (p.Arg44Leu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- 1000Genomes rs149701833
- ESP rs149701833
- ExAC rs149701833
- TOPMed rs149701833
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- ESM-1b 0.00
- AlphaMissense 0.51
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available