G77C (p.Gly77Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G77C (p.Gly77Cys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G77C (p.Gly77Cys) variant details
- p.Gly77Cys
- cosmic curated COSV10097
- gnomAD rs1553764132
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.70
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available