C37R (p.Cys37Arg) variant of CSRP3 (P50461)
C37R (p.Cys37Arg) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C37R (p.Cys37Arg) variant details
- p.Cys37Arg
- rs776468900
- ClinGen CA5916670
- ClinVar RCV001973894
- ClinVar RCV004591677
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- CADD 29.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 12; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)