F32L (p.Phe32Leu) variant of PLN (Phospholamban)
F32L (p.Phe32Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- rs1489656774
- ClinGen CA365546403
- ClinVar RCV003628192
- gnomAD rs1489656774
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.82
- MetaLR 0.77
- MetaSVM 0.71
- CADD 23.60
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)