T49M (p.Thr49Met) variant of PLCG2 (P16885)
T49M (p.Thr49Met) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, 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 0.79 / 1. The record also includes population frequency data and structural context.
T49M (p.Thr49Met) variant details
- p.Thr49Met
- rs1231997442
- ClinGen CA396895564
- cosmic curated COSV63876
- ClinVar RCV003333482
- Uncertain significance
- Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available