E36Q (p.Glu36Gln) variant of SETBP1 (SET-binding protein)
E36Q (p.Glu36Gln) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- ExAC rs773643149
- gnomAD rs773643149
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available