R48P (p.Arg48Pro) variant of TERT (Telomerase reverse transcriptase)
R48P (p.Arg48Pro) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- Ensembl rs1751291943
- Uncertain significance
- Missense
- MetaLR 0.84
- MetaSVM 0.29
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available