S32R (p.Ser32Arg) variant of PLCG2 (P16885)
S32R (p.Ser32Arg) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PLCG2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes experimental measurements and structural context.
S32R (p.Ser32Arg) variant details
- p.Ser32Arg
- rs1314680723
- ClinGen CA396895453
- ClinVar RCV003408438
- Uncertain significance
- PLCG2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.71
- PolyPhen-2 0.46
- SIFT 0.48
- MutPred 0.54
- ClinVar: Uncertain significance (PLCG2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.278