G14R (p.Gly14Arg) variant of SETBP1 (SET-binding protein)
G14R (p.Gly14Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- Ensembl rs1317988090
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 26.00
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available