P54S (p.Pro54Ser) variant of JMJD4 (Q9H9V9)
P54S (p.Pro54Ser) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- TOPMed rs1660994394
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.93
- MetaSVM 1.09
- CADD 31.00
- Population evidence available
- Structural context available