E20A (p.Glu20Ala) variant of FLNC (Filamin-C)
E20A (p.Glu20Ala) 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; Myofibrillar m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E20A (p.Glu20Ala) variant details
- p.Glu20Ala
- rs1478918808
- ClinGen CA369215548
- ClinVar RCV005831626
- ClinVar RCV006606671
- Uncertain significance
- Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.22
- CADD 25.10
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)