R43Q (p.Arg43Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R43Q (p.Arg43Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- cosmic curated COSV10651
- gnomAD rs1553764161
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -1.01
- CADD 17.80
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available