Y41C (p.Tyr41Cys) variant of JMJD4 (Q9H9V9)
Y41C (p.Tyr41Cys) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Y41C (p.Tyr41Cys) variant details
- p.Tyr41Cys
- ExAC rs777101659
- TOPMed rs777101659
- gnomAD rs777101659
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.16
- MetaSVM -0.73
- CADD 27.50
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available