M222V (p.Met222Val) variant of FLNC (Filamin-C)
M222V (p.Met222Val) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
M222V (p.Met222Val) variant details
- p.Met222Val
- rs2128934074
- ClinGen CA369221351
- ClinVar RCV005253952
- ClinVar RCV006610812
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.88
- MetaLR 0.39
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)