E23D (p.Glu23Asp) variant of PLCG2 (P16885)
E23D (p.Glu23Asp) in PLCG2 (P16885) is a missense 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, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- gnomAD rs1365609689
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 26.20
- PolyPhen-2 0.88
- 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 -0.0593