Y41C (p.Tyr41Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
Y41C (p.Tyr41Cys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Y41C (p.Tyr41Cys) variant details
- p.Tyr41Cys
- TOPMed rs1409136448
- gnomAD rs1409136448
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.14
- MetaSVM -0.87
- CADD 27.00
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available