G12E (p.Gly12Glu) variant of SERPINC1 (Antithrombin-III)
G12E (p.Gly12Glu) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs1202691195
- cosmic curated COSV10528
- NCI-TCGA Cosmic COSV6292
- TOPMed rs1202691195
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.30
- CADD 12.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available