R6C (p.Arg6Cys) variant of TERT (Telomerase reverse transcriptase)
R6C (p.Arg6Cys) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs2478436799
- NCI-TCGA TCGA novel
- ClinGen CA2673080995
- ClinVar RCV003805207
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.54
- MetaLR 0.81
- MetaSVM 0.50
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)