Y12* (p.Tyr12Ter) variant of ACTN2 (Alpha-actinin-2)
Y12* (p.Tyr12Ter) in ACTN2 (Alpha-actinin-2) 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 0.42 / 1. The record also includes population frequency data and structural context.
Y12* (p.Tyr12Ter) variant details
- p.Tyr12Ter
- gnomAD rs1302783639
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available