L38Q (p.Leu38Gln) variant of TERT (Telomerase reverse transcriptase)
L38Q (p.Leu38Gln) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L38Q (p.Leu38Gln) variant details
- p.Leu38Gln
- Ensembl rs2126692031
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.57
- MetaLR 0.80
- MetaSVM 0.11
- CADD 25.30
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available