T147A (p.Thr147Ala) variant of SERPINC1 (Antithrombin-III)
T147A (p.Thr147Ala) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T147A (p.Thr147Ala) variant details
- p.Thr147Ala
- rs2227606
- ClinGen CA1251411
- ClinVar RCV001523260
- ClinVar RCV003956212
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin… (PMID 32920809)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)