Y66H (p.Tyr66His) variant of SV2A (Synaptic vesicle glycoprotein 2A)
Y66H (p.Tyr66His) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y66H (p.Tyr66His) variant details
- p.Tyr66His
- gnomAD rs1553764141
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.09
- MetaSVM -1.06
- CADD 23.10
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available