C13R (p.Cys13Arg) variant of CSRP3 (P50461)
C13R (p.Cys13Arg) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C13R (p.Cys13Arg) variant details
- p.Cys13Arg
- rs1257113692
- ClinGen CA379888635
- ClinVar RCV001890517
- ClinVar RCV002361158
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)