S45L (p.Ser45Leu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S45L (p.Ser45Leu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S45L (p.Ser45Leu) variant details
- p.Ser45Leu
- cosmic curated COSV64964
- ExAC rs782071934
- gnomAD rs782071934
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.09
- MetaSVM -1.04
- CADD 26.30
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available