S45P (p.Ser45Pro) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S45P (p.Ser45Pro) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- Ensembl rs2092492449
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.10
- MetaSVM -1.00
- CADD 26.00
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- Structural context available