G15A (p.Gly15Ala) variant of SETBP1 (SET-binding protein)
G15A (p.Gly15Ala) in SETBP1 (SET-binding protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G15A (p.Gly15Ala) variant details
- p.Gly15Ala
- gnomAD 18-44701385-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available