G108D (p.Gly108Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G108D (p.Gly108Asp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of SV2A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G108D (p.Gly108Asp) variant details
- p.Gly108Asp
- rs142331474
- ClinGen CA1071265
- ClinVar RCV003939468
- 1000Genomes rs142331474
- Likely benign
- SV2A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.02
- MetaSVM -1.06
- CADD 16.30
- ClinVar: Likely benign (SV2A-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available