P27T (p.Pro27Thr) variant of SERPINE1 (P05121)
P27T (p.Pro27Thr) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- rs1163437425
- ClinGen CA368594321
- ClinVar RCV002245480
- TOPMed rs1163437425
- Uncertain significance
- Congenital plasminogen activator inhibitor type 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.17
- CADD 2.70
- PolyPhen-2 0.01
- SIFT 0.57
- 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)