L39* (p.Leu39Ter) variant of PLN (Phospholamban)
L39* (p.Leu39Ter) in PLN (Phospholamban) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L39* (p.Leu39Ter) variant details
- p.Leu39Ter
- rs111033560
- ClinGen CA249977
- ClinVar RCV000014607
- ClinVar RCV000022712
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and… (PMID 12639993)
- Cited in: Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. (PMID 17655857)