R14I (p.Arg14Ile) variant of PLN (Phospholamban)
R14I (p.Arg14Ile) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dilated cardiomyopathy 1P; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R14I (p.Arg14Ile) variant details
- p.Arg14Ile
- rs151112761
- ClinGen CA3977972
- ClinVar RCV000551751
- ClinVar RCV002330878
- Uncertain significance
- not provided; Dilated cardiomyopathy 1P; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.92
- MetaLR 0.86
- MetaSVM 0.87
- CADD 28.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1P; Cardiovascular phenotyp)
- EBI: Variant of uncertain significance (in CMD1P)
- UniProt: Uncertain significance (in CMD1P)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)