D16G (p.Asp16Gly) variant of FLNC (Filamin-C)
D16G (p.Asp16Gly) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Distal myopathy with posterior leg and anterior han. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- rs1807849706
- ClinVar RCV005405023
- ClinVar RCV006352783
- ClinVar RCV006631368
- Conflicting interpretations
- not specified; not provided; Distal myopathy with posterior leg and anterior han
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Distal myopathy with posterior leg)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)