D68G (p.Asp68Gly) variant of SETBP1 (SET-binding protein)
D68G (p.Asp68Gly) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D68G (p.Asp68Gly) variant details
- p.Asp68Gly
- gnomAD 18-44701549-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- MetaLR 0.46
- MetaSVM 0.17
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available