R48H (p.Arg48His) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R48H (p.Arg48His) 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.
R48H (p.Arg48His) variant details
- p.Arg48His
- cosmic curated COSV64964
- ExAC rs782027117
- TOPMed rs782027117
- gnomAD rs782027117
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.12
- MetaSVM -0.98
- CADD 26.10
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available