I1621F (p.Ile1621Phe) variant of FLNC (Filamin-C)
I1621F (p.Ile1621Phe) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Restrictive cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
I1621F (p.Ile1621Phe) variant details
- p.Ile1621Phe
- rs1808685364
- ClinGen CA369203385
- ClinVar RCV001328491
- Ensembl rs1808685364
- Likely pathogenic
- Restrictive cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.95
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Restrictive cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available