S80P (p.Ser80Pro) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S80P (p.Ser80Pro) 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.
S80P (p.Ser80Pro) variant details
- p.Ser80Pro
- ExAC rs782802218
- gnomAD rs782802218
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.49
- MetaLR 0.07
- MetaSVM -1.07
- CADD 23.30
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available