T4M (p.Thr4Met) variant of PLCG2 (P16885)
T4M (p.Thr4Met) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T4M (p.Thr4Met) variant details
- p.Thr4Met
- rs199972098
- ClinGen CA8193000
- cosmic curated COSV63877
- ClinVar RCV001421588
- Likely benign
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 5.50
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Likely benign (Familial cold autoinflammatory syndrome 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:TSI population (allele frequency 0.0097)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0189