A38D (p.Ala38Asp) variant of JMJD4 (Q9H9V9)
A38D (p.Ala38Asp) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A38D (p.Ala38Asp) variant details
- p.Ala38Asp
- ExAC rs775519701
- TOPMed rs775519701
- gnomAD rs775519701
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.03
- CADD 18.17
- Most common in the Amish population (allele frequency 0.013)
- Structural context available