E62V (p.Glu62Val) variant of SETBP1 (SET-binding protein)
E62V (p.Glu62Val) 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 0.65 / 1. The record also includes population frequency data and structural context.
E62V (p.Glu62Val) variant details
- p.Glu62Val
- rs1029376020
- ClinGen CA299822536
- ClinVar RCV003880237
- TOPMed rs1029376020
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 27.60
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available