I47M (p.Ile47Met) variant of PLN (Phospholamban)
I47M (p.Ile47Met) 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. 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.
I47M (p.Ile47Met) variant details
- p.Ile47Met
- rs552078051
- ClinGen CA3977976
- ClinVar RCV001917766
- 1000Genomes rs552078051
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.80
- MetaLR 0.73
- MetaSVM 0.50
- CADD 23.90
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)