R50Q (p.Arg50Gln) variant of PLCG2 (P16885)
R50Q (p.Arg50Gln) 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 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs370242901
- ClinGen CA8193044
- ClinVar RCV003643384
- ExAC rs370242901
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 26.40
- PolyPhen-2 0.65
- SIFT 0.03
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score 0.0574