S9F (p.Ser9Phe) variant of PLCG2 (P16885)
S9F (p.Ser9Phe) in PLCG2 (P16885) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- gnomAD 16-81786015-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.223
- Literature evidence available