P23A (p.Pro23Ala) variant of TERT (Telomerase reverse transcriptase)
P23A (p.Pro23Ala) 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 0.47 / 1. The record also includes population frequency data and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- Ensembl rs2126692512
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.42
- MetaLR 0.82
- MetaSVM 0.26
- CADD 17.80
- PolyPhen-2 0.18
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available