I12M (p.Ile12Met) variant of PLN (Phospholamban)
I12M (p.Ile12Met) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1P; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I12M (p.Ile12Met) variant details
- p.Ile12Met
- rs774556120
- ClinGen CA3977971
- ClinVar RCV000769215
- ClinVar RCV001214646
- Uncertain significance
- Dilated cardiomyopathy 1P; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.37
- MetaLR 0.28
- MetaSVM -0.80
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)