N82D (p.Asn82Asp) variant of ATXN2 (Ataxin-2)
N82D (p.Asn82Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
N82D (p.Asn82Asp) variant details
- p.Asn82Asp
- gnomAD rs1392466485
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 21.40
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)