A83D (p.Ala83Asp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A83D (p.Ala83Asp) 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.
A83D (p.Ala83Asp) variant details
- p.Ala83Asp
- cosmic curated COSV10821
- Ensembl rs2092491025
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.78
- MetaLR 0.10
- MetaSVM -1.05
- SIFT 0.01
- Structural context available