V5M (p.Val5Met) variant of SERPINC1 (Antithrombin-III)
V5M (p.Val5Met) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary antithrombin deficiency; Inborn genetic diseases. 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.
V5M (p.Val5Met) variant details
- p.Val5Met
- cosmic curated COSV62929
- TOPMed rs750709130
- gnomAD rs750709130
- Uncertain significance
- Hereditary antithrombin deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.20
- CADD 8.38
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary antithrombin deficiency; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available