G9R (p.Gly9Arg) variant of NTRK2 (Q16620)
G9R (p.Gly9Arg) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 58; Obesity, hyperphagia, and develo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- rs1373336521
- ClinGen CA374004573
- ClinVar RCV001837231
- ClinVar RCV003382650
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 58; Obesity, hyperphagia, and develo
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.46
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 58; Obesity, hyperph)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- 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)