D63Y (p.Asp63Tyr) variant of FLNC (Filamin-C)
D63Y (p.Asp63Tyr) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D63Y (p.Asp63Tyr) variant details
- p.Asp63Tyr
- rs762095259
- ClinGen CA4473971
- ClinVar RCV002415288
- ClinVar RCV006620631
- Uncertain significance
- Distal myopathy with posterior leg and anterior hand involvement; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.80
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)