R15C (p.Arg15Cys) variant of TERT (Telomerase reverse transcriptase)
R15C (p.Arg15Cys) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar 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 0.80 / 1. The record also includes population frequency data and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- Ensembl rs2126692769
- Uncertain significance
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.79
- MetaLR 0.85
- MetaSVM 0.92
- CADD 27.40
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.3e-05)
- Structural context available