D2Y (p.Asp2Tyr) variant of JMJD4 (Q9H9V9)
D2Y (p.Asp2Tyr) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- gnomAD rs1284527512
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.59
- MetaLR 0.17
- MetaSVM -0.92
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available