E16Q (p.Glu16Gln) variant of SETBP1 (SET-binding protein)
E16Q (p.Glu16Gln) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- gnomAD 18-44701392-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- MetaLR 0.40
- MetaSVM -0.33
- CADD 25.00
- PolyPhen-2 0.47
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available