T2520N (p.Thr2520Asn) variant of FLNC (Filamin-C)
T2520N (p.Thr2520Asn) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Distal myopathy with posterior leg and anterior hand involvement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
T2520N (p.Thr2520Asn) variant details
- p.Thr2520Asn
- rs1809086992
- ClinGen CA369219025
- ClinVar RCV006609062
- Ensembl rs1809086992
- Likely pathogenic
- not provided; Distal myopathy with posterior leg and anterior hand involvement
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.89
- MetaLR 0.83
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.48
- ClinVar: Likely pathogenic (not provided; Distal myopathy with posterior leg and anterior ha)
- EBI: Likely pathogenic
- UniProt: Likely 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)