L49* (p.Leu49Ter) variant of JMJD4 (Q9H9V9)
L49* (p.Leu49Ter) in JMJD4 (Q9H9V9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L49* (p.Leu49Ter) variant details
- p.Leu49Ter
- gnomAD rs1660996178
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 38.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available