R34H (p.Arg34His) variant of PLCG2 (P16885)
R34H (p.Arg34His) 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 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs537204469
- ClinGen CA8193026
- ClinVar RCV003529320
- 1000Genomes rs537204469
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 25.50
- PolyPhen-2 0.42
- SIFT 0.02
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.164