I12V (p.Ile12Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
I12V (p.Ile12Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- ESP rs149833121
- ExAC rs149833121
- TOPMed rs149833121
- gnomAD rs149833121
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.08
- CADD 16.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available