P44L (p.Pro44Leu) variant of TERT (Telomerase reverse transcriptase)
P44L (p.Pro44Leu) 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; Dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs2126691833
- ClinGen CA359059131
- ClinVar RCV002555650
- ClinVar RCV005505284
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.56
- MetaLR 0.81
- MetaSVM 0.73
- CADD 27.40
- PolyPhen-2 0.88
- SIFT 0.02
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)