S50C (p.Ser50Cys) variant of SERPINE1 (P05121)
S50C (p.Ser50Cys) in SERPINE1 (P05121) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital plasminogen activator inhibitor type 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- rs1412176159
- ClinGen CA368594747
- ClinVar RCV001165029
- TOPMed rs1412176159
- Uncertain significance
- Congenital plasminogen activator inhibitor type 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Congenital plasminogen activator inhibitor type 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Complete Plasminogen Activator Inhibitor 1 Deficiency. (PMID 28771291)