I18T (p.Ile18Thr) variant of PLN (Phospholamban)
I18T (p.Ile18Thr) 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; Hypertrophic cardiomyopathy 18; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- rs1029766634
- ClinGen CA146529607
- ClinVar RCV000695526
- ClinVar RCV001798961
- Uncertain significance
- Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy 18; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.75
- MetaLR 0.53
- MetaSVM -0.01
- CADD 24.10
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P; Hypertrophic cardiomyopathy 18; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)