S45W (p.Ser45Trp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S45W (p.Ser45Trp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S45W (p.Ser45Trp) variant details
- p.Ser45Trp
- ExAC rs782071934
- gnomAD rs782071934
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.14
- MetaSVM -0.92
- CADD 27.50
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available