I18V (p.Ile18Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
I18V (p.Ile18Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- ExAC rs782281762
- gnomAD rs782281762
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.07
- MetaSVM -1.10
- CADD 23.20
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available