A32V (p.Ala32Val) variant of FLNC (Filamin-C)
A32V (p.Ala32Val) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Distal myopathy with posterior leg and anterior hand involvement; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs2128932120
- ClinGen CA369215705
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10036
- Uncertain significance
- Distal myopathy with posterior leg and anterior hand involvement; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.94
- MetaLR 0.45
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Distal myopathy with posterior leg and anterior hand involvement)
- 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)