I18L (p.Ile18Leu) variant of PLCG2 (P16885)
I18L (p.Ile18Leu) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I18L (p.Ile18Leu) variant details
- p.Ile18Leu
- gnomAD 16-81786041-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.26
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.936
- Literature evidence available