R3C (p.Arg3Cys) variant of JMJD4 (Q9H9V9)
R3C (p.Arg3Cys) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- ExAC rs763500823
- TOPMed rs763500823
- gnomAD rs763500823
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.18
- ESM-1b 0.02
- AlphaMissense 0.27
- MetaLR 0.05
- MetaSVM -1.13
- CADD 22.90
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available