G121A (p.Gly121Ala) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G121A (p.Gly121Ala) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G121A (p.Gly121Ala) variant details
- p.Gly121Ala
- TOPMed rs2092489559
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.02
- CADD 16.80
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available