Y41F (p.Tyr41Phe) variant of JMJD4 (Q9H9V9)
Y41F (p.Tyr41Phe) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y41F (p.Tyr41Phe) variant details
- p.Tyr41Phe
- ExAC rs777101659
- TOPMed rs777101659
- gnomAD rs777101659
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.23
- ESM-1b 0.61
- AlphaMissense 0.34
- MetaLR 0.13
- MetaSVM -0.95
- CADD 25.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available