R6C (p.Arg6Cys) variant of JMJD4 (Q9H9V9)
R6C (p.Arg6Cys) 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 0.29 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs759354399
- ClinGen CA1428171
- ClinVar RCV004078201
- ExAC rs759354399
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available