V30E (p.Val30Glu) variant of SERPINC1 (Antithrombin-III)
V30E (p.Val30Glu) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Dublin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V30E (p.Val30Glu) variant details
- p.Val30Glu
- rs2227624
- ClinGen CA325653
- ClinVar RCV000019628
- ClinVar RCV000852239
- Pathogenic
- in Dublin
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.46
- CADD 15.90
- PolyPhen-2 0.18
- SIFT 0.02
- EBI: Pathogenic (in Dublin)
- UniProt: Pathogenic (in Dublin)
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: Genetic studies of antithrombin III with IEF and ASO hybridization. (PMID 1483705)
- Cited in: Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site. (PMID 1977621)