L51I (p.Leu51Ile) variant of PLN (Phospholamban)
L51I (p.Leu51Ile) 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 0.69 / 1. The record also includes published literature and structural context.
L51I (p.Leu51Ile) variant details
- p.Leu51Ile
- rs766452369
- ClinGen CA365546789
- ClinVar RCV001041423
- ExAC rs766452369
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.12
- MetaLR 0.86
- MetaSVM 0.90
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.72
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)