A9V (p.Ala9Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A9V (p.Ala9Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- ESP rs377199913
- ExAC rs377199913
- TOPMed rs377199913
- gnomAD rs377199913
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.11
- MetaSVM -0.93
- CADD 24.00
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available