P133S (p.Pro133Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
P133S (p.Pro133Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P133S (p.Pro133Ser) variant details
- p.Pro133Ser
- ExAC rs782237402
- gnomAD rs782237402
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.08
- CADD 15.10
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available