R3H (p.Arg3His) variant of TERT (Telomerase reverse transcriptase)
R3H (p.Arg3His) 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 0.53 / 1. The record also includes population frequency data and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- Ensembl rs2126693146
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.46
- MetaLR 0.86
- MetaSVM 0.72
- CADD 25.00
- PolyPhen-2 0.91
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available