S127R (p.Ser127Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S127R (p.Ser127Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S127R (p.Ser127Arg) variant details
- p.Ser127Arg
- gnomAD rs1425564934
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.03
- MetaSVM -1.08
- CADD 0.02
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available