P4L (p.Pro4Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
P4L (p.Pro4Leu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs748689012
- ClinGen CA043117
- cosmic curated COSV57033
- ClinVar RCV000774446
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)