R112Q (p.Arg112Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R112Q (p.Arg112Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R112Q (p.Arg112Gln) variant details
- p.Arg112Gln
- cosmic curated COSV64965
- ExAC rs782642962
- TOPMed rs782642962
- gnomAD rs782642962
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.98
- CADD 14.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available