D19E (p.Asp19Glu) variant of JMJD4 (Q9H9V9)
D19E (p.Asp19Glu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- rs2295994
- cosmic curated COSV59916
- UniProt VAR 032900
- 1000Genomes rs2295994
- Missense
- Variant Prioritization Score for Impact Estimate 0.0829
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -0.95
- CADD 0.08
- Most common in the HGDP:NAXI population (allele frequency 0.71)
- Structural context available