R37L (p.Arg37Leu) variant of TERT (Telomerase reverse transcriptase)
R37L (p.Arg37Leu) 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 Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- rs1239502548
- ClinGen CA359059287
- ClinVar RCV002597618
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.20
- MetaLR 0.58
- MetaSVM -0.37
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-06)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)