G41S (p.Gly41Ser) variant of ATXN2 (Ataxin-2)
G41S (p.Gly41Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- Ensembl rs1885150883
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00012)