L13P (p.Leu13Pro) variant of TERT (Telomerase reverse transcriptase)
L13P (p.Leu13Pro) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- Ensembl rs2126692819
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.61
- MetaLR 0.83
- MetaSVM 0.29
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available