E12G (p.Glu12Gly) variant of PLCG2 (P16885)
E12G (p.Glu12Gly) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- gnomAD 16-81786024-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 28.00
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.48
- Literature evidence available