A30V (p.Ala30Val) variant of SETBP1 (SET-binding protein)
A30V (p.Ala30Val) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- Ensembl rs2069113921
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available