W120L (p.Trp120Leu) variant of ATXN3 (Ataxin-3)
W120L (p.Trp120Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
W120L (p.Trp120Leu) variant details
- p.Trp120Leu
- ExAC rs749230434
- gnomAD rs749230434
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)