Y160F (p.Tyr160Phe) variant of ATXN3 (Ataxin-3)
Y160F (p.Tyr160Phe) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
Y160F (p.Tyr160Phe) variant details
- p.Tyr160Phe
- gnomAD rs1303020344
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)