L50F (p.Leu50Phe) variant of FLNC (Filamin-C)
L50F (p.Leu50Phe) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Distal myopathy with posterior leg and anterior hand involvement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- NCI-TCGA TCGA novel
- Ensembl rs2128932147
- Uncertain significance
- not provided; Distal myopathy with posterior leg and anterior hand involvement
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.82
- AlphaMissense 0.93
- MetaLR 0.73
- MetaSVM 0.70
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Distal myopathy with posterior leg and anterior ha)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available