G19S (p.Gly19Ser) variant of FLNA (Filamin-A)
G19S (p.Gly19Ser) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- gnomAD rs1557180253
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.11
- CADD 8.66
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available