E48Q (p.Glu48Gln) variant of PLCG2 (P16885)
E48Q (p.Glu48Gln) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- ExAC rs746891285
- TOPMed rs746891285
- gnomAD rs746891285
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 29.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.848