M21V (p.Met21Val) variant of FLNC (Filamin-C)
M21V (p.Met21Val) 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 provided; Hypertrophic cardiomyopathy 26; Distal myopathy with posterior leg. 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.
M21V (p.Met21Val) variant details
- p.Met21Val
- rs1174042673
- ClinGen CA369215556
- ClinVar RCV003365369
- ClinVar RCV006609182
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy 26; Distal myopathy with posterior leg
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy 26; Distal myopathy wi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)