I181M (p.Ile181Met) variant of ATXN3 (Ataxin-3)
I181M (p.Ile181Met) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
I181M (p.Ile181Met) variant details
- p.Ile181Met
- ESP rs150738718
- ExAC rs150738718
- TOPMed rs150738718
- gnomAD rs150738718
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 21.30
- PolyPhen-2 0.71
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 4.8e-05)