S106C (p.Ser106Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S106C (p.Ser106Cys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S106C (p.Ser106Cys) variant details
- p.Ser106Cys
- ExAC rs782231605
- gnomAD rs782231605
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.10
- MetaSVM -1.04
- CADD 24.90
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available