S96N (p.Ser96Asn) variant of ATXN3 (Ataxin-3)
S96N (p.Ser96Asn) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
S96N (p.Ser96Asn) variant details
- p.Ser96Asn
- ExAC rs775850621
- gnomAD rs775850621
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)