V16I (p.Val16Ile) variant of SERPINC1 (Antithrombin-III)
V16I (p.Val16Ile) 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 0.11 / 1. The record also includes population frequency data and structural context.
V16I (p.Val16Ile) variant details
- p.Val16Ile
- Ensembl rs986804201
- Uncertain significance
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.14
- CADD 1.32
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available