R8L (p.Arg8Leu) variant of TERT (Telomerase reverse transcriptase)
R8L (p.Arg8Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs1379224925
- ClinVar RCV004561431
- TOPMed rs1379224925
- gnomAD rs1379224925
- Uncertain significance
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.29
- MetaLR 0.64
- MetaSVM -0.35
- CADD 20.20
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- 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)