S17A (p.Ser17Ala) variant of SETBP1 (SET-binding protein)
S17A (p.Ser17Ala) in SETBP1 (SET-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S17A (p.Ser17Ala) variant details
- p.Ser17Ala
- TOPMed rs1436724007
- gnomAD rs1436724007
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available