G100R (p.Gly100Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G100R (p.Gly100Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- gnomAD rs1553764120
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 1.00
- MetaLR 0.16
- MetaSVM -0.84
- CADD 25.30
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available