A25V (p.Ala25Val) variant of SETBP1 (SET-binding protein)
A25V (p.Ala25Val) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 18-44701420-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- MetaLR 0.17
- MetaSVM -0.89
- CADD 15.10
- PolyPhen-2 0.07
- SIFT 0.34
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available