W49* (p.Trp49Ter) variant of ABCC9 (O60706)
W49* (p.Trp49Ter) in ABCC9 (O60706) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
W49* (p.Trp49Ter) variant details
- p.Trp49Ter
- rs886049175
- ClinGen CA384131990
- ClinVar RCV003168126
- ClinVar RCV005101005
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.026)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)