D18G (p.Asp18Gly) variant of SETBP1 (SET-binding protein)
D18G (p.Asp18Gly) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D18G (p.Asp18Gly) variant details
- p.Asp18Gly
- Ensembl rs2069112998
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available