R42W (p.Arg42Trp) variant of RAI1 (Retinoic acid-induced protein 1)
R42W (p.Arg42Trp) 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 RAI1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- rs200677855
- ClinGen CA8418049
- cosmic curated COSV10963
- ClinVar RCV003002809
- Uncertain significance
- RAI1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.21
- ESM-1b 0.65
- AlphaMissense 0.60
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (RAI1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available