G116R (p.Gly116Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G116R (p.Gly116Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G116R (p.Gly116Arg) variant details
- p.Gly116Arg
- ExAC rs782710040
- gnomAD rs782710040
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.03
- MetaSVM -1.11
- CADD 18.60
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available