L31R (p.Leu31Arg) variant of TERT (Telomerase reverse transcriptase)
L31R (p.Leu31Arg) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L31R (p.Leu31Arg) variant details
- p.Leu31Arg
- Ensembl rs2126692248
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.72
- MetaLR 0.84
- MetaSVM 0.76
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available