E39Q (p.Glu39Gln) variant of PLCG2 (P16885)
E39Q (p.Glu39Gln) 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, published literature, and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- gnomAD 16-81786104-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 27.90
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.31
- Literature evidence available