H25R (p.His25Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
H25R (p.His25Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H25R (p.His25Arg) variant details
- p.His25Arg
- TOPMed rs1225491475
- gnomAD rs1225491475
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.05
- MetaSVM -1.09
- CADD 23.00
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available