G699S (p.Gly699Ser) variant of PLCG2 (P16885)
G699S (p.Gly699Ser) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G699S (p.Gly699Ser) variant details
- p.Gly699Ser
- rs753618006
- ClinGen CA8194089
- ClinVar RCV001824263
- ExAC rs753618006
- Likely pathogenic
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Likely pathogenic (Familial cold autoinflammatory syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available