R46L (p.Arg46Leu) variant of JMJD4 (Q9H9V9)
R46L (p.Arg46Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- cosmic curated COSV10513
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -1.03
- CADD 18.41
- Population evidence available
- Structural context available