R8W (p.Arg8Trp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R8W (p.Arg8Trp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- ExAC rs782697320
- gnomAD rs782697320
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.46
- MetaSVM -0.09
- CADD 28.30
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available