M2T (p.Met2Thr) variant of FLNC (Filamin-C)
M2T (p.Met2Thr) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- rs2536604657
- ClinGen CA369215338
- ClinVar RCV006620853
- Uncertain significance
- Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)