P27L (p.Pro27Leu) variant of JMJD4 (Q9H9V9)
P27L (p.Pro27Leu) 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.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- ExAC rs754574195
- gnomAD rs754574195
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.02
- CADD 5.33
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available