D18E (p.Asp18Glu) variant of SETBP1 (SET-binding protein)
D18E (p.Asp18Glu) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D18E (p.Asp18Glu) variant details
- p.Asp18Glu
- gnomAD rs1181828475
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- CADD 1.72
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available