W34* (p.Trp34Ter) variant of FLNC (Filamin-C)
W34* (p.Trp34Ter) in FLNC (Filamin-C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W34* (p.Trp34Ter) variant details
- p.Trp34Ter
- rs2128932126
- ClinGen CA369215734
- ClinVar RCV004998977
- ClinVar RCV006610506
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- 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)