T10A (p.Thr10Ala) variant of SERPINC1 (Antithrombin-III)
T10A (p.Thr10Ala) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- Ensembl rs967432692
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.21
- CADD 2.17
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available