T60K (p.Thr60Lys) variant of ATXN3 (Ataxin-3)
T60K (p.Thr60Lys) in ATXN3 (Ataxin-3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
T60K (p.Thr60Lys) variant details
- p.Thr60Lys
- cosmic curated COSV10818
- ESP rs144506566
- ExAC rs144506566
- TOPMed rs144506566
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.83
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)