R67Q (p.Arg67Gln) variant of SETBP1 (SET-binding protein)
R67Q (p.Arg67Gln) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R67Q (p.Arg67Gln) variant details
- p.Arg67Gln
- rs778196366
- ClinGen CA8945347
- cosmic curated COSV10516
- ClinVar RCV002049322
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 23.70
- PolyPhen-2 0.79
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available