L60P (p.Leu60Pro) variant of FLNC (Filamin-C)
L60P (p.Leu60Pro) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
L60P (p.Leu60Pro) variant details
- p.Leu60Pro
- rs1807855891
- ClinGen CA369216221
- ClinVar RCV003487221
- ClinVar RCV006270605
- Uncertain significance
- Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)