L125I (p.Leu125Ile) variant of SETX (Helicase senataxin)
L125I (p.Leu125Ile) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L125I (p.Leu125Ile) variant details
- p.Leu125Ile
- TOPMed rs1206306151
- gnomAD rs1206306151
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.35
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available