P44Q (p.Pro44Gln) variant of TERT (Telomerase reverse transcriptase)
P44Q (p.Pro44Gln) 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.
P44Q (p.Pro44Gln) variant details
- p.Pro44Gln
- Ensembl rs2126691833
- Uncertain significance
- Missense
- MetaLR 0.77
- MetaSVM 0.38
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available