L87I (p.Leu87Ile) variant of SETX (Helicase senataxin)
L87I (p.Leu87Ile) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L87I (p.Leu87Ile) variant details
- p.Leu87Ile
- gnomAD rs1424701796
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.85
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available