S65G (p.Ser65Gly) variant of FLNC (Filamin-C)
S65G (p.Ser65Gly) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S65G (p.Ser65Gly) variant details
- p.Ser65Gly
- rs1258459459
- ClinGen CA369216265
- cosmic curated COSV57949
- ClinVar RCV002413148
- Uncertain significance
- Distal myopathy with posterior leg and anterior hand involvement; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.37
- ClinVar: Uncertain significance (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)