R44T (p.Arg44Thr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R44T (p.Arg44Thr) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R44T (p.Arg44Thr) variant details
- p.Arg44Thr
- TOPMed rs1177766964
- gnomAD rs1177766964
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.42
- MetaLR 0.05
- MetaSVM -1.11
- CADD 23.00
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- Structural context available