R26L (p.Arg26Leu) variant of RAI1 (Retinoic acid-induced protein 1)
R26L (p.Arg26Leu) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- rs139160898
- ClinGen CA398544708
- ClinVar RCV003548782
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.73
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available