P2R (p.Pro2Arg) variant of TERT (Telomerase reverse transcriptase)
P2R (p.Pro2Arg) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- rs1751303315
- ClinGen CA359060096
- ClinVar RCV003103958
- Ensembl rs1751303315
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.29
- MetaLR 0.74
- MetaSVM -0.04
- CADD 18.70
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)