F18L (p.Phe18Leu) variant of MYL2 (P10916)
F18L (p.Phe18Leu) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- rs104894370
- NCI-TCGA TCGA novel
- ClinGen CA010488
- NCI-TCGA Cosmic COSV5740
- Pathogenic/Likely pathogenic
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.90
- CADD 28.60
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy)
- EBI: Pathogenic (in CMH10)
- UniProt: Pathogenic (in CMH10)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+… (PMID 11102452)
- Cited in: Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with… (PMID 9535554)