G15R (p.Gly15Arg) variant of SETBP1 (SET-binding protein)
G15R (p.Gly15Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- gnomAD 18-44701389-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- MetaLR 0.12
- MetaSVM -0.99
- CADD 18.50
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available