I1937N (p.Ile1937Asn) variant of FLNC (Filamin-C)
I1937N (p.Ile1937Asn) 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 Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
I1937N (p.Ile1937Asn) variant details
- p.Ile1937Asn
- rs1585166795
- ClinGen CA369208548
- ClinVar RCV000788797
- ClinVar RCV006608789
- Pathogenic/Likely pathogenic
- Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Distal myopathy with posterior leg and anterior hand involvement)
- 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)