P57A (p.Pro57Ala) variant of SETBP1 (SET-binding protein)
P57A (p.Pro57Ala) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
P57A (p.Pro57Ala) variant details
- p.Pro57Ala
- gnomAD 18-44701515-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.22
- MetaSVM -0.71
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Literature evidence available