I18T (p.Ile18Thr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
I18T (p.Ile18Thr) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- TOPMed rs1571509547
- gnomAD rs1571509547
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.09
- MetaSVM -1.09
- CADD 26.30
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available