V30M (p.Val30Met) variant of SERPINC1 (Antithrombin-III)
V30M (p.Val30Met) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs532883680
- ClinGen CA1251470
- cosmic curated COSV62928
- ClinVar RCV003819117
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.25
- CADD 6.80
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance (in Dublin)
- UniProt: Uncertain significance (in Dublin)
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)