G24S (p.Gly24Ser) variant of JMJD4 (Q9H9V9)
G24S (p.Gly24Ser) 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 0.09 / 1. The record also includes population frequency data and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- ExAC rs746254779
- TOPMed rs746254779
- gnomAD rs746254779
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0866
- REVEL 0.00
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -0.98
- CADD 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available