S91F (p.Ser91Phe) variant of ATXN2 (Ataxin-2)
S91F (p.Ser91Phe) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S91F (p.Ser91Phe) variant details
- p.Ser91Phe
- TOPMed rs1885134709
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 9.23
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available