E39R (p.Glu39Arg) variant of PLCG2 (P16885)
E39R (p.Glu39Arg) in PLCG2 (P16885) is a protein-truncating 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.
E39R (p.Glu39Arg) variant details
- p.Glu39Arg
- gnomAD 16-81786098-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 26.30
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.31
- Literature evidence available