G131C (p.Gly131Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G131C (p.Gly131Cys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G131C (p.Gly131Cys) variant details
- p.Gly131Cys
- ExAC rs782381989
- gnomAD rs782381989
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.08
- MetaSVM -0.95
- CADD 20.50
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available