I12M (p.Ile12Met) variant of SV2A (Synaptic vesicle glycoprotein 2A)
I12M (p.Ile12Met) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I12M (p.Ile12Met) variant details
- p.Ile12Met
- ExAC rs782107503
- TOPMed rs782107503
- gnomAD rs782107503
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.02
- MetaSVM -1.06
- CADD 20.70
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- Structural context available