I12V (p.Ile12Val) variant of PLN (Phospholamban)
I12V (p.Ile12Val) 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; Cardiomyopathy; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- rs749571694
- ClinGen CA3977969
- ClinVar RCV000214972
- ClinVar RCV000229704
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.27
- MetaLR 0.31
- MetaSVM -0.63
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)