A120V (p.Ala120Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A120V (p.Ala120Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes structural context.
A120V (p.Ala120Val) variant details
- p.Ala120Val
- TOPMed rs2092489667
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.04
- SIFT 0.30
- Structural context available