R69L (p.Arg69Leu) variant of JMJD4 (Q9H9V9)
R69L (p.Arg69Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R69L (p.Arg69Leu) variant details
- p.Arg69Leu
- Ensembl rs2102871246
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.08
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available