R112W (p.Arg112Trp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R112W (p.Arg112Trp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R112W (p.Arg112Trp) variant details
- p.Arg112Trp
- 1000Genomes rs587649813
- ExAC rs587649813
- gnomAD rs587649813
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.08
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available