G66R (p.Gly66Arg) variant of SETBP1 (SET-binding protein)
G66R (p.Gly66Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- gnomAD 18-44701542-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- MetaLR 0.54
- MetaSVM 0.07
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available