P44S (p.Pro44Ser) variant of TERT (Telomerase reverse transcriptase)
P44S (p.Pro44Ser) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- rs2126691846
- ClinGen CA359059138
- ClinVar RCV002261761
- Ensembl rs2126691846
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.38
- MetaLR 0.76
- MetaSVM 0.38
- CADD 23.70
- PolyPhen-2 0.75
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available