L136F (p.Leu136Phe) variant of ATXN3 (Ataxin-3)
L136F (p.Leu136Phe) in ATXN3 (Ataxin-3) 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.
L136F (p.Leu136Phe) variant details
- p.Leu136Phe
- ESP rs144152152
- ExAC rs144152152
- TOPMed rs144152152
- gnomAD rs144152152
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)