A7V (p.Ala7Val) variant of JMJD4 (Q9H9V9)
A7V (p.Ala7Val) in JMJD4 (Q9H9V9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- 1000Genomes rs575178410
- ExAC rs575178410
- TOPMed rs575178410
- gnomAD rs575178410
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0824
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -0.99
- CADD 4.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available