A26P (p.Ala26Pro) variant of FLNA (Filamin-A)
A26P (p.Ala26Pro) 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; Melnick-Needles syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A26P (p.Ala26Pro) variant details
- p.Ala26Pro
- rs886038966
- ClinGen CA10587975
- ClinVar RCV001859453
- ClinVar RCV002310891
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Melnick-Needles syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.47
- AlphaMissense 0.10
- MetaLR 0.40
- MetaSVM -0.33
- CADD 23.40
- PolyPhen-2 0.62
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Melnick)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00067)
- 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)