V22I (p.Val22Ile) variant of SETBP1 (SET-binding protein)
V22I (p.Val22Ile) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- TOPMed rs1187725431
- gnomAD rs1187725431
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 16.50
- PolyPhen-2 0.02
- SIFT 0.65
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available