R50W (p.Arg50Trp) variant of PLCG2 (P16885)
R50W (p.Arg50Trp) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R50W (p.Arg50Trp) variant details
- p.Arg50Trp
- ExAC rs770951220
- TOPMed rs770951220
- gnomAD rs770951220
- Uncertain significance
- Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 22.90
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0574