M50L (p.Met50Leu) variant of PLN (Phospholamban)
M50L (p.Met50Leu) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
M50L (p.Met50Leu) variant details
- p.Met50Leu
- rs757797900
- ClinGen CA3977978
- ClinVar RCV000770227
- ExAC rs757797900
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.40
- MetaLR 0.47
- MetaSVM -0.14
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)