P5L (p.Pro5Leu) variant of TERT (Telomerase reverse transcriptase)
P5L (p.Pro5Leu) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- Ensembl rs2126693086
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.31
- MetaLR 0.67
- MetaSVM 0.29
- CADD 22.30
- PolyPhen-2 0.12
- SIFT 0.02
- Population evidence available
- Structural context available