Q17R (p.Gln17Arg) variant of PLCG2 (P16885)
Q17R (p.Gln17Arg) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Familial cold autoinflammatory syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q17R (p.Gln17Arg) variant details
- p.Gln17Arg
- rs757826017
- ClinGen CA396895362
- ClinVar RCV002766892
- ClinVar RCV005692508
- Uncertain significance
- Inborn genetic diseases; Familial cold autoinflammatory syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.15
- MetaLR 0.16
- MetaSVM -0.94
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial cold autoinflammatory syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.494
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)