E130A (p.Glu130Ala) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E130A (p.Glu130Ala) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E130A (p.Glu130Ala) variant details
- p.Glu130Ala
- Ensembl rs2101624947
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.10
- CADD 17.80
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available