I117M (p.Ile117Met) variant of SETX (Helicase senataxin)
I117M (p.Ile117Met) in SETX (Helicase senataxin) 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 0.40 / 1. The record also includes population frequency data and structural context.
I117M (p.Ile117Met) variant details
- p.Ile117Met
- TOPMed rs1338835422
- gnomAD rs1338835422
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.50
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available