Q2R (p.Gln2Arg) variant of RAI1 (Retinoic acid-induced protein 1)
Q2R (p.Gln2Arg) 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 0.49 / 1. The record also includes population frequency data and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- rs2143001428
- ClinGen CA398544543
- ClinVar RCV001888387
- Ensembl rs2143001428
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.84
- CADD 25.50
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available