R70H (p.Arg70His) variant of JMJD4 (Q9H9V9)
R70H (p.Arg70His) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R70H (p.Arg70His) variant details
- p.Arg70His
- Ensembl rs1660989043
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -0.99
- CADD 13.62
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available