R6Q (p.Arg6Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R6Q (p.Arg6Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs138530043
- cosmic curated COSV10097
- ESP rs138530043
- ExAC rs138530043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.15
- MetaSVM -1.08
- CADD 22.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available