V122I (p.Val122Ile) variant of SV2A (Synaptic vesicle glycoprotein 2A)
V122I (p.Val122Ile) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V122I (p.Val122Ile) variant details
- p.Val122Ile
- TOPMed rs2092489535
- gnomAD rs2092489535
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.06
- CADD 13.80
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available