A29E (p.Ala29Glu) variant of FLNC (Filamin-C)
A29E (p.Ala29Glu) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
A29E (p.Ala29Glu) variant details
- p.Ala29Glu
- rs2128932114
- ClinGen CA369215662
- ClinVar RCV003991929
- Likely pathogenic
- Hypertrophic cardiomyopathy 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.91
- MetaLR 0.38
- MetaSVM -0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 26)
- 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)