R4M (p.Arg4Met) variant of SETBP1 (SET-binding protein)
R4M (p.Arg4Met) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R4M (p.Arg4Met) variant details
- p.Arg4Met
- gnomAD 18-44701357-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available