P21H (p.Pro21His) variant of JMJD4 (Q9H9V9)
P21H (p.Pro21His) in JMJD4 (Q9H9V9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- ExAC rs767467840
- TOPMed rs767467840
- gnomAD rs767467840
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.06
- MetaSVM -1.02
- CADD 10.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available