G135A (p.Gly135Ala) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G135A (p.Gly135Ala) in SV2A (Synaptic vesicle glycoprotein 2A) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. 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.
G135A (p.Gly135Ala) variant details
- p.Gly135Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.04
- CADD 9.64
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available