S58F (p.Ser58Phe) variant of JMJD4 (Q9H9V9)
S58F (p.Ser58Phe) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- 1000Genomes rs552801369
- gnomAD rs552801369
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.14
- MetaSVM -0.85
- CADD 29.90
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available