E30K (p.Glu30Lys) variant of FLNC (Filamin-C)
E30K (p.Glu30Lys) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs2128932116
- ClinGen CA369215666
- ClinVar RCV005001266
- ClinVar RCV006611033
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 0.87
- MetaLR 0.40
- MetaSVM -0.17
- PolyPhen-2 0.89
- SIFT 0.01
- EVE 0.65
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 26; Myofibrillar myopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)