M1V (p.Met1Val) variant of SLC2A10 (O95528)
M1V (p.Met1Val) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Arterial tortuosity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1355346296
- ClinGen CA409262051
- ClinVar RCV002835072
- Conflicting interpretations
- Arterial tortuosity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- MetaLR 0.38
- MetaSVM -0.62
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Conflicting classifications of pathogenicity (Arterial tortuosity syndrome)
- UniProt: Conflicting interpretations
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic… (PMID 25173340)