I1904N (p.Ile1904Asn) variant of FLNC (Filamin-C)
I1904N (p.Ile1904Asn) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar 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 0.82 / 1. The record also includes population frequency data and structural context.
I1904N (p.Ile1904Asn) variant details
- p.Ile1904Asn
- ExAC rs746749122
- gnomAD rs746749122
- Pathogenic/Likely pathogenic
- Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Distal myopathy with posterior leg and anterior hand involvement)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available