I101V (p.Ile101Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
I101V (p.Ile101Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I101V (p.Ile101Val) variant details
- p.Ile101Val
- cosmic curated COSV10606
- ExAC rs781943756
- gnomAD rs781943756
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.59
- MetaLR 0.04
- MetaSVM -1.11
- CADD 20.10
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available