D115H (p.Asp115His) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D115H (p.Asp115His) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D115H (p.Asp115His) variant details
- p.Asp115His
- ESP rs371863053
- ExAC rs371863053
- TOPMed rs371863053
- gnomAD rs371863053
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.02
- MetaSVM -1.08
- CADD 19.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available