I61M (p.Ile61Met) variant of PLCG2 (P16885)
I61M (p.Ile61Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I61M (p.Ile61Met) variant details
- p.Ile61Met
- rs553657822
- ClinGen CA396895641
- ClinVar RCV001902960
- 1000Genomes rs553657822
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 13.30
- PolyPhen-2 0.86
- SIFT 0.15
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available