E36K (p.Glu36Lys) variant of SETBP1 (SET-binding protein)
E36K (p.Glu36Lys) 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.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- ExAC rs773643149
- gnomAD rs773643149
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 24.00
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available