P23R (p.Pro23Arg) variant of TERT (Telomerase reverse transcriptase)
P23R (p.Pro23Arg) 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 0.58 / 1. The record also includes population frequency data and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- Ensembl rs2126692506
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.58
- MetaLR 0.85
- MetaSVM 0.49
- CADD 24.10
- PolyPhen-2 0.49
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available