L38V (p.Leu38Val) variant of TERT (Telomerase reverse transcriptase)
L38V (p.Leu38Val) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- TOPMed rs1004308241
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.23
- MetaLR 0.77
- MetaSVM 0.14
- CADD 20.90
- PolyPhen-2 0.04
- SIFT 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available