I101T (p.Ile101Thr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
I101T (p.Ile101Thr) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I101T (p.Ile101Thr) variant details
- p.Ile101Thr
- ExAC rs782308977
- gnomAD rs782308977
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.13
- MetaSVM -0.94
- CADD 25.50
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available