L38F (p.Leu38Phe) variant of SLC2A10 (O95528)
L38F (p.Leu38Phe) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- TOPMed rs1219654584
- gnomAD rs1219654584
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.24
- CADD 20.20
- PolyPhen-2 0.90
- SIFT 0.49
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Likely benign
- Population evidence available
- Structural context available