E69V (p.Glu69Val) variant of SERPINC1 (Antithrombin-III)
E69V (p.Glu69Val) 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 0.23 / 1. The record also includes population frequency data and structural context.
E69V (p.Glu69Val) variant details
- p.Glu69Val
- ESP rs377500819
- ExAC rs377500819
- TOPMed rs377500819
- gnomAD rs377500819
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.17
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available