S42F (p.Ser42Phe) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S42F (p.Ser42Phe) 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 0.22 / 1. The record also includes structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- rs1457123133
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64965
- TOPMed rs1457123133
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- ESM-1b 0.00
- AlphaMissense 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available