R11H (p.Arg11His) variant of TERT (Telomerase reverse transcriptase)
R11H (p.Arg11His) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- Ensembl rs2126692884
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.55
- MetaLR 0.81
- MetaSVM 0.70
- CADD 19.00
- PolyPhen-2 0.15
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available