A104T (p.Ala104Thr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A104T (p.Ala104Thr) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A104T (p.Ala104Thr) variant details
- p.Ala104Thr
- gnomAD rs1553764110
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.11
- CADD 17.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available