G43S (p.Gly43Ser) variant of ATXN2 (Ataxin-2)
G43S (p.Gly43Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- TOPMed rs1047179807
- gnomAD rs1047179807
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)