T34R (p.Thr34Arg) variant of NTRK2 (Q16620)
T34R (p.Thr34Arg) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T34R (p.Thr34Arg) variant details
- p.Thr34Arg
- rs759206123
- ClinGen CA374004736
- ClinVar RCV003020666
- ClinVar RCV004068529
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.45
- CADD 8.34
- PolyPhen-2 0.06
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)