G47D (p.Gly47Asp) variant of JMJD4 (Q9H9V9)
G47D (p.Gly47Asp) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- gnomAD rs1371187072
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.11
- MetaSVM -0.94
- CADD 19.27
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available