V99I (p.Val99Ile) variant of JMJD4 (Q9H9V9)
V99I (p.Val99Ile) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V99I (p.Val99Ile) variant details
- p.Val99Ile
- ESP rs200460718
- ExAC rs200460718
- TOPMed rs200460718
- gnomAD rs200460718
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.05
- ESM-1b 0.40
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.06
- CADD 15.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available