V69G (p.Val69Gly) variant of SETBP1 (SET-binding protein)
V69G (p.Val69Gly) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V69G (p.Val69Gly) variant details
- p.Val69Gly
- gnomAD rs1251298483
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.07
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available