P42A (p.Pro42Ala) variant of SETBP1 (SET-binding protein)
P42A (p.Pro42Ala) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
P42A (p.Pro42Ala) variant details
- p.Pro42Ala
- gnomAD 18-44701470-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- MetaLR 0.07
- MetaSVM -1.01
- CADD 1.40
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Literature evidence available