R69W (p.Arg69Trp) variant of JMJD4 (Q9H9V9)
R69W (p.Arg69Trp) 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 0.26 / 1. The record also includes population frequency data and structural context.
R69W (p.Arg69Trp) variant details
- p.Arg69Trp
- rs780957060
- ClinGen CA1428113
- ClinVar RCV004290879
- ExAC rs780957060
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -1.07
- CADD 25.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available