T60M (p.Thr60Met) variant of ATXN3 (Ataxin-3)
T60M (p.Thr60Met) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of ATXN3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs144506566
- ClinGen CA7314751
- cosmic curated COSV61496
- ClinVar RCV003943952
- Likely benign
- ATXN3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 23.70
- PolyPhen-2 0.71
- SIFT 0.11
- ClinVar: Likely benign (ATXN3-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)