A7G (p.Ala7Gly) variant of JMJD4 (Q9H9V9)
A7G (p.Ala7Gly) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- rs575178410
- ClinGen CA1428169
- ClinVar RCV004401265
- 1000Genomes rs575178410
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -0.99
- CADD 7.91
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available