L44M (p.Leu44Met) variant of PLN (Phospholamban)
L44M (p.Leu44Met) in PLN (Phospholamban) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L44M (p.Leu44Met) variant details
- p.Leu44Met
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.69
- MetaLR 0.81
- MetaSVM 0.73
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available