A117V (p.Ala117Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A117V (p.Ala117Val) 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.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- cosmic curated COSV10651
- ExAC rs781903721
- TOPMed rs781903721
- gnomAD rs781903721
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -1.05
- CADD 17.90
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available