C37* (p.Cys37Ter) variant of CSRP3 (P50461)
C37* (p.Cys37Ter) in CSRP3 (P50461) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C37* (p.Cys37Ter) variant details
- p.Cys37Ter
- rs1850628800
- ClinGen CA379888465
- cosmic curated COSV56390
- ClinVar RCV001170940
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)