G14W (p.Gly14Trp) variant of SETBP1 (SET-binding protein)
G14W (p.Gly14Trp) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G14W (p.Gly14Trp) variant details
- p.Gly14Trp
- gnomAD 18-44701386-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- MetaLR 0.57
- MetaSVM -0.01
- CADD 27.60
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available