V39M (p.Val39Met) variant of TERT (Telomerase reverse transcriptase)
V39M (p.Val39Met) 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 0.50 / 1. The record also includes population frequency data and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- Ensembl rs1751294892
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.44
- MetaLR 0.86
- MetaSVM 0.45
- CADD 23.20
- PolyPhen-2 0.78
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available