R11G (p.Arg11Gly) variant of SETBP1 (SET-binding protein)
R11G (p.Arg11Gly) in SETBP1 (SET-binding protein) 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 population frequency data.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- rs776221622
- ClinGen CA402481297
- ClinVar RCV003717426
- ExAC rs776221622
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 24.20
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)