R3P (p.Arg3Pro) variant of TERT (Telomerase reverse transcriptase)
R3P (p.Arg3Pro) 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 Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs2126693146
- ClinGen CA359060072
- ClinVar RCV002563612
- Ensembl rs2126693146
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.58
- MetaLR 0.86
- MetaSVM 0.72
- CADD 25.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- 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)