S65F (p.Ser65Phe) variant of ATXN2 (Ataxin-2)
S65F (p.Ser65Phe) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
S65F (p.Ser65Phe) variant details
- p.Ser65Phe
- TOPMed rs1290735356
- gnomAD rs1290735356
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 21.80
- Most common in the South Asian population (allele frequency 1.2e-05)