R78Q (p.Arg78Gln) variant of SERPINC1 (Antithrombin-III)
R78Q (p.Arg78Gln) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs774294043
- ClinGen CA1251448
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.34
- CADD 21.20
- PolyPhen-2 0.04
- SIFT 0.32
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)