T122I (p.Thr122Ile) variant of SERPINC1 (Antithrombin-III)
T122I (p.Thr122Ile) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
T122I (p.Thr122Ile) variant details
- p.Thr122Ile
- gnomAD rs1253864431
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.63
- AlphaMissense 0.68
- MetaLR 0.49
- MetaSVM -0.27
- CADD 27.40
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available