S40F (p.Ser40Phe) variant of SETBP1 (SET-binding protein)
S40F (p.Ser40Phe) 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.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- gnomAD 18-44701465-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- MetaLR 0.32
- MetaSVM -0.53
- CADD 22.80
- PolyPhen-2 0.35
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available