Y14* (p.Tyr14Ter) variant of ACTN2 (Alpha-actinin-2)
Y14* (p.Tyr14Ter) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y14* (p.Tyr14Ter) variant details
- p.Tyr14Ter
- NCI-TCGA Cosmic COSV6397
- cosmic curated COSV63973
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available