Q22* (p.Gln22Ter) variant of ACTN2 (Alpha-actinin-2)
Q22* (p.Gln22Ter) in ACTN2 (Alpha-actinin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- rs1553295414
- ClinGen CA345358257
- ClinVar RCV000527174
- Ensembl rs1553295414
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)