Y41S (p.Tyr41Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
Y41S (p.Tyr41Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y41S (p.Tyr41Ser) variant details
- p.Tyr41Ser
- TOPMed rs1409136448
- gnomAD rs1409136448
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.49
- MetaLR 0.14
- MetaSVM -0.87
- CADD 26.50
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available