L50V (p.Leu50Val) variant of FLNC (Filamin-C)
L50V (p.Leu50Val) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- rs2128932147
- ClinGen CA369216048
- ClinVar RCV006624371
- Uncertain significance
- Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.93
- MetaLR 0.73
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Uncertain significance (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)