R8P (p.Arg8Pro) variant of TERT (Telomerase reverse transcriptase)
R8P (p.Arg8Pro) 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 0.28 / 1. The record also includes population frequency data and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- TOPMed rs1379224925
- gnomAD rs1379224925
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.18
- MetaLR 0.55
- MetaSVM -0.45
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available