W36* (p.Trp36Ter) variant of ACTN2 (Alpha-actinin-2)
W36* (p.Trp36Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W36* (p.Trp36Ter) variant details
- p.Trp36Ter
- rs2102851395
- ClinGen CA345358429
- cosmic curated COSV63972
- ClinVar RCV001508963
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 43.00
- 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)