G108V (p.Gly108Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G108V (p.Gly108Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G108V (p.Gly108Val) variant details
- p.Gly108Val
- 1000Genomes rs142331474
- ESP rs142331474
- ExAC rs142331474
- TOPMed rs142331474
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.08
- CADD 19.50
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available