D100G (p.Asp100Gly) variant of SERPINC1 (Antithrombin-III)
D100G (p.Asp100Gly) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- rs369524182
- ClinGen CA1251444
- cosmic curated COSV10820
- ClinVar RCV000786221
- Likely benign
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.06
- ClinVar: Likely benign (Hereditary antithrombin deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- 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)