D73A (p.Asp73Ala) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D73A (p.Asp73Ala) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D73A (p.Asp73Ala) variant details
- p.Asp73Ala
- gnomAD rs914540027
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.10
- CADD 19.20
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available