D8E (p.Asp8Glu) variant of PLCG2 (P16885)
D8E (p.Asp8Glu) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D8E (p.Asp8Glu) variant details
- p.Asp8Glu
- ExAC rs772051902
- gnomAD rs772051902
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.49
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.576