S127C (p.Ser127Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S127C (p.Ser127Cys) 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.
S127C (p.Ser127Cys) variant details
- p.Ser127Cys
- 1000Genomes rs192119231
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- ESM-1b 0.96
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.02
- CADD 22.40
- Population evidence available
- Structural context available