D71N (p.Asp71Asn) variant of ATXN3 (Ataxin-3)
D71N (p.Asp71Asn) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- cosmic curated COSV61496
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)