R11L (p.Arg11Leu) variant of SETBP1 (SET-binding protein)
R11L (p.Arg11Leu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- TOPMed rs535002208
- gnomAD rs535002208
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 26.40
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.3e-05)