Q40R (p.Gln40Arg) variant of TERT (Telomerase reverse transcriptase)
Q40R (p.Gln40Arg) 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 0.26 / 1. The record also includes population frequency data and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- Ensembl rs1751294652
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.16
- MetaLR 0.39
- MetaSVM -0.64
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available