N80I (p.Asn80Ile) variant of ATXN2 (Ataxin-2)
N80I (p.Asn80Ile) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
N80I (p.Asn80Ile) variant details
- p.Asn80Ile
- Ensembl rs1885137888
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 24.20
- Population evidence available