E56A (p.Glu56Ala) variant of SETBP1 (SET-binding protein)
E56A (p.Glu56Ala) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E56A (p.Glu56Ala) variant details
- p.Glu56Ala
- gnomAD 18-44701513-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.36
- MetaSVM -0.09
- CADD 22.90
- PolyPhen-2 0.39
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available