S16G (p.Ser16Gly) variant of PLCG2 (P16885)
S16G (p.Ser16Gly) 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 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- rs764524085
- ClinGen CA8193010
- ClinVar RCV003644144
- ExAC rs764524085
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 23.30
- PolyPhen-2 0.40
- SIFT 0.30
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.629