L44P (p.Leu44Pro) variant of CSRP3 (P50461)
L44P (p.Leu44Pro) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- rs104894205
- ClinGen CA119913
- ClinVar RCV000009323
- ClinVar RCV000037770
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.98
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Pathogenic (in CMH12)
- UniProt: Pathogenic (in CMH12)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. (PMID 12642359)
- Cited in: MLP and CARP are linked to chronic PKCĪ± signalling in dilated cardiomyopathy. (PMID 27353086)