D54V (p.Asp54Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D54V (p.Asp54Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
D54V (p.Asp54Val) variant details
- p.Asp54Val
- ExAC rs782245410
- gnomAD rs782245410
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.22
- ESM-1b 0.71
- AlphaMissense 0.26
- MetaLR 0.05
- MetaSVM -1.09
- SIFT 0.00
- Structural context available