S47C (p.Ser47Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S47C (p.Ser47Cys) in SV2A (Synaptic vesicle glycoprotein 2A) 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 0.63 / 1. The record also includes structural context.
S47C (p.Ser47Cys) variant details
- p.Ser47Cys
- rs1394633706
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64964
- TOPMed rs1394633706
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- ESM-1b 1.00
- AlphaMissense 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available