S9N (p.Ser9Asn) variant of SETBP1 (SET-binding protein)
S9N (p.Ser9Asn) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- gnomAD 18-44701372-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 22.10
- PolyPhen-2 0.21
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Literature evidence available