S8N (p.Ser8Asn) variant of SETBP1 (SET-binding protein)
S8N (p.Ser8Asn) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- gnomAD 18-44701369-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 18.30
- PolyPhen-2 0.15
- SIFT 0.22
- Population evidence available
- Literature evidence available