D8V (p.Asp8Val) variant of PLCG2 (P16885)
D8V (p.Asp8Val) 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 record also includes experimental measurements and structural context.
D8V (p.Asp8Val) variant details
- p.Asp8Val
- rs2507343685
- ClinGen CA396895305
- ClinVar RCV003644245
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- 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 -0.576