I143V (p.Ile143Val) variant of ATXN3 (Ataxin-3)
I143V (p.Ile143Val) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
I143V (p.Ile143Val) variant details
- p.Ile143Val
- TOPMed rs2063134140
- gnomAD rs2063134140
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 22.80
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)