V22F (p.Val22Phe) variant of SETBP1 (SET-binding protein)
V22F (p.Val22Phe) 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 structural context.
V22F (p.Val22Phe) variant details
- p.Val22Phe
- TOPMed rs1187725431
- gnomAD rs1187725431
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available