S36C (p.Ser36Cys) variant of PLCG2 (P16885)
S36C (p.Ser36Cys) 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 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S36C (p.Ser36Cys) variant details
- p.Ser36Cys
- rs2507344050
- ClinGen CA396895483
- ClinVar RCV003873273
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.368