A120T (p.Ala120Thr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A120T (p.Ala120Thr) 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.
A120T (p.Ala120Thr) variant details
- p.Ala120Thr
- gnomAD rs1553764089
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.00
- CADD 19.60
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available