T93M (p.Thr93Met) variant of NTRK3 (NT-3 growth factor receptor)
T93M (p.Thr93Met) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Neonatal cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T93M (p.Thr93Met) variant details
- p.Thr93Met
- rs147992979
- ClinGen CA7717363
- cosmic curated COSV58125
- ClinVar RCV002250159
- Conflicting interpretations
- not specified; Neonatal cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.81
- CADD 23.20
- PolyPhen-2 0.92
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not specified; Neonatal cardiomyopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. (PMID 25196463)