L150F (p.Leu150Phe) variant of ATXN3 (Ataxin-3)
L150F (p.Leu150Phe) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
L150F (p.Leu150Phe) variant details
- p.Leu150Phe
- ExAC rs767933266
- gnomAD rs767933266
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 24.80
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)