I107V (p.Ile107Val) variant of ATXN3 (Ataxin-3)
I107V (p.Ile107Val) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data.
I107V (p.Ile107Val) variant details
- p.Ile107Val
- ExAC rs781706817
- TOPMed rs781706817
- gnomAD rs781706817
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)