L31P (p.Leu31Pro) variant of TERT (Telomerase reverse transcriptase)
L31P (p.Leu31Pro) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- Ensembl rs2126692248
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.70
- MetaLR 0.72
- MetaSVM 0.40
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available