P2L (p.Pro2Leu) variant of TERT (Telomerase reverse transcriptase)
P2L (p.Pro2Leu) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs1751303315
- ClinGen CA359060090
- ClinVar RCV002538480
- Ensembl rs1751303315
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- MetaLR 0.65
- MetaSVM 0.22
- CADD 19.30
- PolyPhen-2 0.00
- 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 1e-06)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)