N82K (p.Asn82Lys) variant of ATXN2 (Ataxin-2)
N82K (p.Asn82Lys) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
N82K (p.Asn82Lys) variant details
- p.Asn82Lys
- 1000Genomes rs1220774408
- TOPMed rs1220774408
- gnomAD rs1220774408
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 21.90
- Most common in the Middle Eastern population (allele frequency 0.0007)