P49S (p.Pro49Ser) variant of ATXN2 (Ataxin-2)
P49S (p.Pro49Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- TOPMed rs1371744210
- gnomAD rs1371744210
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 11.40
- Most common in the HGDP:FRENCH population (allele frequency 0.019)