V56L (p.Val56Leu) variant of JMJD4 (Q9H9V9)
V56L (p.Val56Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V56L (p.Val56Leu) variant details
- p.Val56Leu
- TOPMed rs992174394
- gnomAD rs992174394
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.05
- MetaSVM -1.05
- CADD 22.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available