E48E (p.Glu48Glu) variant of PLCG2 (P16885)
E48E (p.Glu48Glu) in PLCG2 (P16885) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- gnomAD 16-81786133-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 10.20
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.848
- Literature evidence available