L7F (p.Leu7Phe) variant of SETBP1 (SET-binding protein)
L7F (p.Leu7Phe) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- gnomAD 18-44701367-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 23.60
- PolyPhen-2 0.66
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available