L177I (p.Leu177Ile) variant of ATXN3 (Ataxin-3)
L177I (p.Leu177Ile) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
L177I (p.Leu177Ile) variant details
- p.Leu177Ile
- ExAC rs781702814
- TOPMed rs781702814
- gnomAD rs781702814
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 22.20
- PolyPhen-2 0.37
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)