L42I (p.Leu42Ile) variant of PLN (Phospholamban)
L42I (p.Leu42Ile) 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 0.61 / 1. The record also includes published literature and structural context.
L42I (p.Leu42Ile) variant details
- p.Leu42Ile
- rs2114970183
- ClinGen CA365546645
- NCI-TCGA Cosmic COSV6264
- ClinVar RCV001883333
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.24
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.11
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)