P23L (p.Pro23Leu) variant of TERT (Telomerase reverse transcriptase)
P23L (p.Pro23Leu) 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 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- Ensembl rs2126692506
- Uncertain significance
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.57
- MetaLR 0.85
- MetaSVM 0.83
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Uncertain significance (Pulmonary fibrosis and/or bone marrow failure, Telomere-related,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available