S61T (p.Ser61Thr) variant of FLNA (Filamin-A)
S61T (p.Ser61Thr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S61T (p.Ser61Thr) variant details
- p.Ser61Thr
- rs1557180197
- ClinGen CA415255125
- ClinVar RCV002467320
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available