L51F (p.Leu51Phe) variant of PLN (Phospholamban)
L51F (p.Leu51Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L51F (p.Leu51Phe) variant details
- p.Leu51Phe
- rs766452369
- ClinGen CA3977979
- ClinVar RCV001773301
- ClinVar RCV005095045
- Uncertain significance
- not provided; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.74
- AlphaMissense 0.12
- MetaLR 0.86
- MetaSVM 0.90
- CADD 24.70
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)