N52D (p.Asn52Asp) variant of JMJD4 (Q9H9V9)
N52D (p.Asn52Asp) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- TOPMed rs1395210219
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.58
- MetaSVM 0.23
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available