G9C (p.Gly9Cys) variant of FLNA (Filamin-A)
G9C (p.Gly9Cys) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- rs782292045
- ClinGen CA10561473
- ClinVar RCV000501455
- ClinVar RCV002056848
- Conflicting interpretations
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.31
- CADD 21.50
- PolyPhen-2 0.11
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00079)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)