V48* (p.Val48Ter) variant of TET2 (Methylcytosine dioxygenase TET2)
V48* (p.Val48Ter) in TET2 (Methylcytosine dioxygenase TET2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V48* (p.Val48Ter) variant details
- p.Val48Ter
- gnomAD 4-105234081-GA-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available