V122G (p.Val122Gly) variant of SV2A (Synaptic vesicle glycoprotein 2A)
V122G (p.Val122Gly) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V122G (p.Val122Gly) variant details
- p.Val122Gly
- Ensembl rs1571508602
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.07
- CADD 12.20
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available