A26V (p.Ala26Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A26V (p.Ala26Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs1266350376
- TOPMed rs1266350376
- gnomAD rs1266350376
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.04
- MetaSVM -1.12
- CADD 22.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available