R44K (p.Arg44Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R44K (p.Arg44Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
R44K (p.Arg44Lys) variant details
- p.Arg44Lys
- TOPMed rs1177766964
- gnomAD rs1177766964
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.05
- MetaSVM -1.10
- SIFT 0.03
- Structural context available