Q17L (p.Gln17Leu) variant of PLCG2 (P16885)
Q17L (p.Gln17Leu) 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 0.34 / 1. The record also includes experimental measurements and structural context.
Q17L (p.Gln17Leu) variant details
- p.Gln17Leu
- rs757826017
- ClinGen CA396895363
- ClinVar RCV001904055
- ExAC rs757826017
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.15
- MetaLR 0.16
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.19
- MutPred 0.40
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.494