V16A (p.Val16Ala) variant of SERPINC1 (Antithrombin-III)
V16A (p.Val16Ala) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V16A (p.Val16Ala) variant details
- p.Val16Ala
- rs531137446
- ClinGen CA1251475
- ClinVar RCV001101593
- ExAC rs531137446
- Likely benign
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.15
- CADD 2.27
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Likely benign (Hereditary antithrombin deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- 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)