S50F (p.Ser50Phe) variant of SERPINE1 (P05121)
S50F (p.Ser50Phe) in SERPINE1 (P05121) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- rs1412176159
- ClinGen CA368594751
- ClinVar RCV001727412
- TOPMed rs1412176159
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.43
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available