D55V (p.Asp55Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D55V (p.Asp55Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D55V (p.Asp55Val) variant details
- p.Asp55Val
- 1000Genomes rs201845756
- ExAC rs201845756
- TOPMed rs201845756
- gnomAD rs201845756
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.19
- ESM-1b 0.49
- AlphaMissense 0.25
- MetaLR 0.11
- MetaSVM -0.97
- CADD 24.10
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available