S9C (p.Ser9Cys) variant of PLCG2 (P16885)
S9C (p.Ser9Cys) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- gnomAD 16-81786015-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 15.40
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.223
- Literature evidence available