V49M (p.Val49Met) variant of PLN (Phospholamban)
V49M (p.Val49Met) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- rs749962743
- ClinGen CA335494
- ClinVar RCV001309721
- ClinVar RCV001704888
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.88
- MetaLR 0.84
- MetaSVM 0.84
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1P; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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: Dilated Cardiomyopathy Overview. (PMID 20301486)