S64L (p.Ser64Leu) variant of SERPINE1 (P05121)
S64L (p.Ser64Leu) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S64L (p.Ser64Leu) variant details
- p.Ser64Leu
- rs758271488
- ClinGen CA4405538
- NCI-TCGA Cosmic COSV9977
- ClinVar RCV000389274
- Uncertain significance
- Congenital plasminogen activator inhibitor type 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.37
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital plasminogen activator inhibitor type 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Complete Plasminogen Activator Inhibitor 1 Deficiency. (PMID 28771291)