V21L (p.Val21Leu) variant of TERT (Telomerase reverse transcriptase)
V21L (p.Val21Leu) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- Ensembl rs2126692567
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.57
- MetaLR 0.85
- MetaSVM 0.91
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.03
- Population evidence available
- Structural context available