Q38L (p.Gln38Leu) variant of FLNC (Filamin-C)
Q38L (p.Gln38Leu) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Myofibrillar myopathy 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
Q38L (p.Gln38Leu) variant details
- p.Gln38Leu
- rs1585147708
- ClinGen CA369215803
- ClinVar RCV000987971
- ClinVar RCV003307789
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.97
- MetaLR 0.60
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)