R20S (p.Arg20Ser) variant of PLCG2 (P16885)
R20S (p.Arg20Ser) in PLCG2 (P16885) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- gnomAD 16-81786044-AAG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 29.90
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.287
- Literature evidence available