P93L (p.Pro93Leu) variant of JMJD4 (Q9H9V9)
P93L (p.Pro93Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P93L (p.Pro93Leu) variant details
- p.Pro93Leu
- ExAC rs776218972
- gnomAD rs776218972
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.43
- MetaSVM -0.07
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available