P33S (p.Pro33Ser) variant of FLNC (Filamin-C)
P33S (p.Pro33Ser) 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 0.54 / 1. The record also includes population frequency data and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- TOPMed rs1562988859
- gnomAD rs1562988859
- Uncertain significance
- not provided; Distal myopathy with posterior leg and anterior hand involvement
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.35
- CADD 28.60
- 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 3.4e-06)
- Structural context available