E19G (p.Glu19Gly) variant of PLN (Phospholamban)
E19G (p.Glu19Gly) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- rs2114969791
- ClinGen CA365546191
- ClinVar RCV001921033
- ClinVar RCV002344034
- Uncertain significance
- Dilated cardiomyopathy 1P; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.25
- MetaLR 0.58
- MetaSVM 0.14
- PolyPhen-2 0.12
- SIFT 0.00
- EVE 0.33
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)