G17R (p.Gly17Arg) variant of JMJD4 (Q9H9V9)
G17R (p.Gly17Arg) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- ExAC rs757921934
- TOPMed rs757921934
- gnomAD rs757921934
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -1.00
- CADD 5.51
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available