Q17P (p.Gln17Pro) variant of PLCG2 (P16885)
Q17P (p.Gln17Pro) in PLCG2 (P16885) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q17P (p.Gln17Pro) variant details
- p.Gln17Pro
- ExAC rs757826017
- TOPMed rs757826017
- gnomAD rs757826017
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.15
- MetaLR 0.16
- MetaSVM -0.94
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.494