P17L (p.Pro17Leu) variant of FLNA (Filamin-A)
P17L (p.Pro17Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs1057524770
- ClinGen CA16608787
- ClinVar RCV000423665
- gnomAD rs1057524770
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.60
- 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 4.8e-06)
- Structural context available