E12D (p.Glu12Asp) variant of PLCG2 (P16885)
E12D (p.Glu12Asp) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- ExAC rs763370826
- gnomAD rs763370826
- Missense
- Variant Prioritization Score for Impact Estimate 0.0814
- CADD 3.66
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.48