A35S (p.Ala35Ser) variant of SERPINE1 (P05121)
A35S (p.Ala35Ser) in SERPINE1 (P05121) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- NCI-TCGA Cosmic COSV9977
- TOPMed rs1796155285
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available