L177F (p.Leu177Phe) variant of ATXN3 (Ataxin-3)
L177F (p.Leu177Phe) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
L177F (p.Leu177Phe) variant details
- p.Leu177Phe
- ExAC rs781702814
- TOPMed rs781702814
- gnomAD rs781702814
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 22.80
- PolyPhen-2 0.31
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 4.8e-05)