P27S (p.Pro27Ser) variant of SERPINE1 (P05121)
P27S (p.Pro27Ser) in SERPINE1 (P05121) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs1163437425
- NCI-TCGA Cosmic COSV5616
- TOPMed rs1163437425
- gnomAD rs1163437425
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.16
- CADD 1.58
- PolyPhen-2 0.01
- SIFT 0.87
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available