A61V (p.Ala61Val) variant of SLC2A10 (O95528)
A61V (p.Ala61Val) in SLC2A10 (O95528) 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 0.74 / 1. The record also includes population frequency data and structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- Ensembl rs1979814209
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.72
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available