R7G (p.Arg7Gly) variant of FLNA (Filamin-A)
R7G (p.Arg7Gly) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; Frontometaphyseal dyspl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs941318584
- ClinGen CA415255893
- cosmic curated COSV10465
- ClinVar RCV001300917
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Frontometaphyseal dyspl
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.38
- CADD 24.90
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Frontom)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- 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)