L31Q (p.Leu31Gln) variant of TERT (Telomerase reverse transcriptase)
L31Q (p.Leu31Gln) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L31Q (p.Leu31Gln) variant details
- p.Leu31Gln
- cosmic curated COSV10461
- Ensembl rs2126692248
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.67
- MetaLR 0.84
- MetaSVM 0.77
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available