R13T (p.Arg13Thr) variant of SETBP1 (SET-binding protein)
R13T (p.Arg13Thr) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R13T (p.Arg13Thr) variant details
- p.Arg13Thr
- gnomAD 18-44701384-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available