R37Q (p.Arg37Gln) variant of TERT (Telomerase reverse transcriptase)
R37Q (p.Arg37Gln) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acute myeloid leukemia; Melanoma, cutaneous malignant, susceptibility to, 9; Pul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs1239502548
- ClinGen CA359059295
- ClinVar RCV002562570
- ClinVar RCV005036486
- Uncertain significance
- Acute myeloid leukemia; Melanoma, cutaneous malignant, susceptibility to, 9; Pul
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.26
- MetaLR 0.71
- MetaSVM -0.04
- CADD 17.90
- PolyPhen-2 0.46
- SIFT 0.19
- ClinVar: Uncertain significance (Acute myeloid leukemia; Melanoma, cutaneous malignant, susceptib)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)