W4R (p.Trp4Arg) variant of CSRP3 (P50461)
W4R (p.Trp4Arg) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Sudden unexplained death; Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
W4R (p.Trp4Arg) variant details
- p.Trp4Arg
- rs45550635
- ClinGen CA175609
- ClinVar RCV000009321
- ClinVar RCV000150371
- Conflicting interpretations
- Sudden unexplained death; Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.47
- CADD 25.20
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Sudden unexplained death; Hypertrophic cardiomyopathy; Cardiovas)
- EBI: Benign (in CMD1M)
- UniProt: Benign (in CMD1M)
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human… (PMID 12507422)
- Cited in: Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM… (PMID 16352453)