L131V (p.Leu131Val) variant of SERPINC1 (Antithrombin-III)
L131V (p.Leu131Val) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L131V (p.Leu131Val) variant details
- p.Leu131Val
- rs121909567
- ClinVar RCV004577659
- UniProt VAR 007046
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.79
- MetaLR 0.78
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.13
- EVE 0.60
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (in AT3D)
- Structural context available
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)