A1895P (p.Ala1895Pro) variant of FLNC (Filamin-C)
A1895P (p.Ala1895Pro) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.80 / 1. The record also includes published literature and structural context.
A1895P (p.Ala1895Pro) variant details
- p.Ala1895Pro
- rs2128938435
- ClinGen CA369207992
- ClinVar RCV006610515
- Ensembl rs2128938435
- Likely pathogenic
- Myofibrillar myopathy 5; not provided; Distal myopathy with posterior leg and an
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Myofibrillar myopathy 5; not provided; Distal myopathy with post)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)