R11W (p.Arg11Trp) variant of SETBP1 (SET-binding protein)
R11W (p.Arg11Trp) in SETBP1 (SET-binding protein) 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 0.51 / 1. The record also includes population frequency data.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- rs776221622
- ClinGen CA8945317
- ClinVar RCV001940916
- ExAC rs776221622
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)