P439L (p.Pro439Leu) variant of SERPINC1 (Antithrombin-III)
P439L (p.Pro439Leu) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary antithrombin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P439L (p.Pro439Leu) variant details
- p.Pro439Leu
- rs121909555
- ClinGen CA210764
- ClinVar RCV000019633
- UniProt VAR 007084
- Likely pathogenic
- Hereditary antithrombin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene. (PMID 2983542)
- Cited in: Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site. (PMID 3191114)