G47S (p.Gly47Ser) variant of JMJD4 (Q9H9V9)
G47S (p.Gly47Ser) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- gnomAD rs1470953093
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.96
- CADD 18.26
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available