R67G (p.Arg67Gly) variant of SETBP1 (SET-binding protein)
R67G (p.Arg67Gly) 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 0.50 / 1. The record also includes population frequency data and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- TOPMed rs955034546
- gnomAD rs955034546
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 24.60
- PolyPhen-2 0.76
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available