C58G (p.Cys58Gly) variant of CSRP3 (P50461)
C58G (p.Cys58Gly) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy. 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.
C58G (p.Cys58Gly) variant details
- p.Cys58Gly
- rs104894204
- ClinGen CA119911
- ClinVar RCV000009322
- ClinVar RCV002399315
- Pathogenic
- Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.96
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Dilated cardiomyopathy 1M; Hypertrophi)
- EBI: Pathogenic (in CMH12)
- UniProt: Pathogenic (in CMH12)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. (PMID 12642359)
- Cited in: Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for… (PMID 15205937)