R24L (p.Arg24Leu) variant of FLNA (Filamin-A)
R24L (p.Arg24Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- rs1350949025
- ClinGen CA415255698
- ClinVar RCV001944429
- ClinVar RCV004042092
- Conflicting interpretations
- not provided; not specified; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Familial thoracic aortic aneurysm a)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 4.4e-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)