S17P (p.Ser17Pro) variant of SETBP1 (SET-binding protein)
S17P (p.Ser17Pro) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- rs1436724007
- ClinGen CA402481333
- ClinVar RCV003692787
- TOPMed rs1436724007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 24.50
- PolyPhen-2 0.65
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available