V39L (p.Val39Leu) variant of TERT (Telomerase reverse transcriptase)
V39L (p.Val39Leu) 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 Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- rs1751294892
- Ensembl rs1751294892
- ClinGen CA359059243
- ClinVar RCV002563368
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- MetaLR 0.71
- MetaSVM 0.03
- CADD 15.40
- PolyPhen-2 0.03
- SIFT 0.38
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- 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)