P22L (p.Pro22Leu) variant of FLNC (Filamin-C)
P22L (p.Pro22Leu) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs908757095
- ClinGen CA369215579
- ClinVar RCV006611919
- TOPMed rs908757095
- Uncertain significance
- Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.77
- MetaLR 0.36
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Distal myopathy with posterior leg and)
- 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)