I48M (p.Ile48Met) variant of SETBP1 (SET-binding protein)
I48M (p.Ile48Met) in SETBP1 (SET-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- rs371516078
- ClinGen CA16621717
- ClinVar RCV000488064
- ClinVar RCV004735569
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available