E23H (p.Glu23His) variant of PLCG2 (P16885)
E23H (p.Glu23His) in PLCG2 (P16885) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E23H (p.Glu23His) variant details
- p.Glu23His
- rs780660956
- gnomAD 16-81786055-GGAGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.0593
- Literature evidence available