G125A (p.Gly125Ala) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G125A (p.Gly125Ala) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G125A (p.Gly125Ala) variant details
- p.Gly125Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.05
- CADD 9.66
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available