G137A (p.Gly137Ala) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G137A (p.Gly137Ala) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G137A (p.Gly137Ala) variant details
- p.Gly137Ala
- TOPMed rs1326993187
- gnomAD rs1326993187
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.04
- CADD 13.80
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available