E48K (p.Glu48Lys) variant of PLCG2 (P16885)
E48K (p.Glu48Lys) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- ExAC rs746891285
- TOPMed rs746891285
- gnomAD rs746891285
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.848