Y53* (p.Tyr53Ter) variant of ATP1A2 (P50993)
Y53* (p.Tyr53Ter) in ATP1A2 (P50993) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y53* (p.Tyr53Ter) variant details
- p.Tyr53Ter
- ExAC rs748066442
- TOPMed rs748066442
- gnomAD rs748066442
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available