Y65C (p.Tyr65Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
Y65C (p.Tyr65Cys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y65C (p.Tyr65Cys) variant details
- p.Tyr65Cys
- gnomAD rs2092491661
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.19
- ESM-1b 0.99
- AlphaMissense 0.24
- MetaLR 0.12
- MetaSVM -1.06
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available