V137A (p.Val137Ala) variant of SERPINC1 (Antithrombin-III)
V137A (p.Val137Ala) 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 0.51 / 1. The record also includes published literature and structural context.
V137A (p.Val137Ala) variant details
- p.Val137Ala
- rs1657792806
- ClinGen CA343776881
- ClinVar RCV001212288
- Ensembl rs1657792806
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.58
- MetaLR 0.49
- MetaSVM -0.07
- PolyPhen-2 0.96
- SIFT 0.05
- EVE 0.35
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Thrombophilia testing: A British Society for Haematology guideline. (PMID 35645034)