G88V (p.Gly88Val) variant of JMJD4 (Q9H9V9)
G88V (p.Gly88Val) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G88V (p.Gly88Val) variant details
- p.Gly88Val
- ESP rs373897456
- ExAC rs373897456
- TOPMed rs373897456
- gnomAD rs373897456
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.19
- MetaSVM -0.55
- CADD 28.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available