M52T (p.Met52Thr) variant of SERPINC1 (Antithrombin-III)
M52T (p.Met52Thr) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M52T (p.Met52Thr) variant details
- p.Met52Thr
- rs892712171
- UniProt VAR 007034
- TOPMed rs892712171
- gnomAD rs892712171
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.03
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific… (PMID 9031473)