A29V (p.Ala29Val) variant of FLNC (Filamin-C)
A29V (p.Ala29Val) 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; not provided; Distal myopathy with posterior leg and an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs2128932114
- ClinGen CA369215665
- ClinVar RCV006610084
- NCI-TCGA TCGA novel
- Uncertain significance
- Myofibrillar myopathy 5; not provided; Distal myopathy with posterior leg and an
- 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: Uncertain significance (Myofibrillar myopathy 5; not provided; Distal myopathy with post)
- 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)