H12Y (p.His12Tyr) variant of JMJD4 (Q9H9V9)
H12Y (p.His12Tyr) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- ExAC rs780259421
- TOPMed rs780259421
- gnomAD rs780259421
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.95
- CADD 2.10
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available