V22D (p.Val22Asp) variant of SETBP1 (SET-binding protein)
V22D (p.Val22Asp) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V22D (p.Val22Asp) variant details
- p.Val22Asp
- 1000Genomes rs185998256
- gnomAD rs185998256
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available