T26M (p.Thr26Met) variant of PLCG2 (P16885)
T26M (p.Thr26Met) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cold autoinflammatory syndrome 3; not provided; Autoinflammation-PLCG2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T26M (p.Thr26Met) variant details
- p.Thr26Met
- rs189301790
- ClinGen CA8193017
- cosmic curated COSV63867
- ClinVar RCV000757665
- Conflicting interpretations
- Familial cold autoinflammatory syndrome 3; not provided; Autoinflammation-PLCG2
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Familial cold autoinflammatory syndrome 3; not provided; Autoinf)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.121