T65N (p.Thr65Asn) variant of ATXN1 (Ataxin-1)
T65N (p.Thr65Asn) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T65N (p.Thr65Asn) variant details
- p.Thr65Asn
- gnomAD rs1211266501
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.11
- CADD 19.30
- PolyPhen-2 0.09
- SIFT 0.14
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available