R54C (p.Arg54Cys) variant of SETBP1 (SET-binding protein)
R54C (p.Arg54Cys) 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 0.78 / 1. The record also includes population frequency data and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs1325528399
- ClinGen CA402481555
- cosmic curated COSV56322
- ClinVar RCV001774435
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 26.30
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available