S32G (p.Ser32Gly) variant of PLCG2 (P16885)
S32G (p.Ser32Gly) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar 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 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S32G (p.Ser32Gly) variant details
- p.Ser32Gly
- gnomAD rs1314680723
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.71
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.48
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.278