V22A (p.Val22Ala) variant of SETBP1 (SET-binding protein)
V22A (p.Val22Ala) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- gnomAD 18-44701411-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- MetaLR 0.11
- MetaSVM -0.98
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available