S80Y (p.Ser80Tyr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S80Y (p.Ser80Tyr) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S80Y (p.Ser80Tyr) variant details
- p.Ser80Tyr
- gnomAD rs1553764130
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.06
- MetaSVM -1.06
- CADD 21.80
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- Structural context available