R11P (p.Arg11Pro) variant of TERT (Telomerase reverse transcriptase)
R11P (p.Arg11Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs2126692884
- ClinGen CA359059891
- ClinVar RCV003072361
- Ensembl rs2126692884
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.74
- MetaLR 0.83
- MetaSVM 0.71
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)