S10R (p.Ser10Arg) variant of ATXN2 (Ataxin-2)
S10R (p.Ser10Arg) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- 1000Genomes rs775766002
- ExAC rs775766002
- TOPMed rs775766002
- gnomAD rs775766002
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 12.40
- Most common in the HGDP:FRENCH population (allele frequency 0.019)