G47C (p.Gly47Cys) variant of JMJD4 (Q9H9V9)
G47C (p.Gly47Cys) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- cosmic curated COSV59919
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.18
- MetaSVM -0.79
- CADD 22.00
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available