R13K (p.Arg13Lys) variant of SETBP1 (SET-binding protein)
R13K (p.Arg13Lys) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- gnomAD 18-44701384-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- MetaLR 0.28
- MetaSVM -0.72
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available