A708P (p.Ala708Pro) variant of PLCG2 (P16885)
A708P (p.Ala708Pro) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
A708P (p.Ala708Pro) variant details
- p.Ala708Pro
- rs1381167403
- ClinGen CA396901943
- ClinVar RCV001227511
- ClinVar RCV005367770
- Pathogenic
- not provided; Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.92
- MetaLR 0.28
- MetaSVM -0.44
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.64
- ClinVar: Pathogenic (not provided; Familial cold autoinflammatory syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available