P44R (p.Pro44Arg) variant of TERT (Telomerase reverse transcriptase)
P44R (p.Pro44Arg) 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 0.68 / 1. The record also includes population frequency data and structural context.
P44R (p.Pro44Arg) variant details
- p.Pro44Arg
- Ensembl rs2126691833
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.57
- MetaLR 0.81
- MetaSVM 0.76
- CADD 27.20
- PolyPhen-2 0.87
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available