E12E (p.Glu12Glu) variant of PLCG2 (P16885)
E12E (p.Glu12Glu) in PLCG2 (P16885) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- rs763370826
- gnomAD 16-81786025-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0935
- CADD 1.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.48
- Literature evidence available