S9Y (p.Ser9Tyr) variant of PLCG2 (P16885)
S9Y (p.Ser9Tyr) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- TOPMed rs1381077690
- gnomAD rs1381077690
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.223