L63R (p.Leu63Arg) variant of SETBP1 (SET-binding protein)
L63R (p.Leu63Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L63R (p.Leu63Arg) variant details
- p.Leu63Arg
- gnomAD 18-44701534-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- MetaLR 0.30
- MetaSVM -0.48
- CADD 22.70
- PolyPhen-2 0.13
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available