P51L (p.Pro51Leu) variant of JMJD4 (Q9H9V9)
P51L (p.Pro51Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- gnomAD rs866628747
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.34
- MetaSVM -0.39
- CADD 26.70
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available