I18N (p.Ile18Asn) variant of PLCG2 (P16885)
I18N (p.Ile18Asn) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I18N (p.Ile18Asn) variant details
- p.Ile18Asn
- gnomAD 16-81786042-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.936
- Literature evidence available