P28R (p.Pro28Arg) variant of SETBP1 (SET-binding protein)
P28R (p.Pro28Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- gnomAD 18-44701429-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- MetaLR 0.21
- MetaSVM -0.89
- CADD 13.70
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available