Y18H (p.Tyr18His) variant of TERT (Telomerase reverse transcriptase)
Y18H (p.Tyr18His) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y18H (p.Tyr18His) variant details
- p.Tyr18His
- Ensembl rs2126692659
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.59
- MetaLR 0.80
- MetaSVM 0.75
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available