C150Y (p.Cys150Tyr) variant of CSRP3 (P50461)
C150Y (p.Cys150Tyr) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C150Y (p.Cys150Tyr) variant details
- p.Cys150Tyr
- rs761507504
- ClinGen CA348182
- ClinVar RCV000203888
- ClinVar RCV000220445
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.97
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)