C10R (p.Cys10Arg) variant of CSRP3 (P50461)
C10R (p.Cys10Arg) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardiovascular phenot. 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.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- rs2133516498
- ClinGen CA379888654
- ClinVar RCV001989598
- ClinVar RCV004045456
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)