M121I (p.Met121Ile) variant of SERPINC1 (Antithrombin-III)
M121I (p.Met121Ile) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M121I (p.Met121Ile) variant details
- p.Met121Ile
- rs371222224
- ClinGen CA1251434
- ClinVar RCV000798956
- ESP rs371222224
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in AT3D)
- UniProt: Uncertain significance (in AT3D)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)