S16R (p.Ser16Arg) variant of PLCG2 (P16885)
S16R (p.Ser16Arg) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation; Fami. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- rs752018966
- ClinGen CA8193011
- ClinVar RCV001507352
- ClinVar RCV001882540
- Uncertain significance
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation; Fami
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 12.70
- PolyPhen-2 0.06
- SIFT 0.29
- ClinVar: Uncertain significance (Autoinflammation-PLCG2-associated antibody deficiency-immune dys)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.629