H87R (p.His87Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
H87R (p.His87Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H87R (p.His87Arg) variant details
- p.His87Arg
- TOPMed rs2092490960
- gnomAD rs2092490960
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.63
- MetaLR 0.14
- MetaSVM -0.88
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available