D68E (p.Asp68Glu) variant of SETBP1 (SET-binding protein)
D68E (p.Asp68Glu) in SETBP1 (SET-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- ExAC rs747370385
- TOPMed rs747370385
- gnomAD rs747370385
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 21.40
- PolyPhen-2 0.97
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available