D68N (p.Asp68Asn) variant of SETBP1 (SET-binding protein)
D68N (p.Asp68Asn) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- gnomAD 18-44701548-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- MetaLR 0.47
- MetaSVM -0.07
- CADD 26.30
- PolyPhen-2 0.79
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available