L12F (p.Leu12Phe) variant of FLNC (Filamin-C)
L12F (p.Leu12Phe) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Distal myopathy with posterior leg and anterior hand involvement; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- Ensembl rs1807848996
- Conflicting interpretations
- Distal myopathy with posterior leg and anterior hand involvement; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.20
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available