A15V (p.Ala15Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A15V (p.Ala15Val) 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 0.41 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs782574888
- ExAC rs782574888
- TOPMed rs782574888
- gnomAD rs782574888
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.84
- MetaLR 0.14
- MetaSVM -0.96
- CADD 27.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available