L133M (p.Leu133Met) variant of ATXN3 (Ataxin-3)
L133M (p.Leu133Met) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
L133M (p.Leu133Met) variant details
- p.Leu133Met
- ExAC rs758482810
- gnomAD rs758482810
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)