R44W (p.Arg44Trp) variant of RAI1 (Retinoic acid-induced protein 1)
R44W (p.Arg44Trp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R44W (p.Arg44Trp) variant details
- p.Arg44Trp
- rs771704970
- ClinGen CA8418052
- ClinVar RCV002089193
- ExAC rs771704970
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.24
- ESM-1b 0.39
- AlphaMissense 0.32
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available