Y147C (p.Tyr147Cys) variant of ATXN3 (Ataxin-3)
Y147C (p.Tyr147Cys) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
Y147C (p.Tyr147Cys) variant details
- p.Tyr147Cys
- 1000Genomes rs577858011
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 24.70
- Most common in the African/African-American population (allele frequency 2.4e-05)