S46R (p.Ser46Arg) variant of CSRP3 (P50461)
S46R (p.Ser46Arg) 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; not specified; Dilated cardiomyopathy 1M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- cosmic curated COSV56389
- ExAC rs747363563
- TOPMed rs747363563
- gnomAD rs747363563
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.93
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.94
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. (PMID 18505755)