L124I (p.Leu124Ile) variant of SETX (Helicase senataxin)
L124I (p.Leu124Ile) 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 0.59 / 1. The record also includes structural context.
L124I (p.Leu124Ile) variant details
- p.Leu124Ile
- rs1488062133
- ClinGen CA375351076
- ClinVar RCV001665124
- gnomAD rs1488062133
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- AlphaMissense 0.46
- MetaLR 0.52
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available