M50T (p.Met50Thr) variant of PLN (Phospholamban)
M50T (p.Met50Thr) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
M50T (p.Met50Thr) variant details
- p.Met50Thr
- rs1779076744
- ClinGen CA365546776
- ClinVar RCV001316405
- ClinVar RCV001799063
- Uncertain significance
- Cardiomyopathy; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.79
- MetaLR 0.46
- MetaSVM -0.07
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiomyopathy; Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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: Dilated Cardiomyopathy Overview. (PMID 20301486)