L52I (p.Leu52Ile) variant of PLN (Phospholamban)
L52I (p.Leu52Ile) 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; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L52I (p.Leu52Ile) variant details
- p.Leu52Ile
- rs2114970391
- ClinGen CA365546796
- ClinVar RCV001368208
- ClinVar RCV002404877
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.48
- MetaLR 0.61
- MetaSVM 0.24
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)