P28L (p.Pro28Leu) variant of SETBP1 (SET-binding protein)
P28L (p.Pro28Leu) 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 0.29 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs915986492
- ClinGen CA299822469
- ClinVar RCV002947491
- TOPMed rs915986492
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 9.65
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available