A38G (p.Ala38Gly) variant of JMJD4 (Q9H9V9)
A38G (p.Ala38Gly) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- ExAC rs775519701
- TOPMed rs775519701
- gnomAD rs775519701
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.03
- CADD 17.86
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available