F33L (p.Phe33Leu) variant of MYL2 (P10916)
F33L (p.Phe33Leu) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- rs730880945
- ClinGen CA010549
- ClinVar RCV000158916
- ClinVar RCV000537629
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.95
- CADD 28.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Myopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)