V50A (p.Val50Ala) variant of SETBP1 (SET-binding protein)
V50A (p.Val50Ala) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- gnomAD 18-44701495-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- MetaLR 0.14
- MetaSVM -0.98
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available