N52S (p.Asn52Ser) variant of JMJD4 (Q9H9V9)
N52S (p.Asn52Ser) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- cosmic curated COSV59919
- ExAC rs767983041
- TOPMed rs767983041
- gnomAD rs767983041
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.38
- MetaSVM -0.25
- CADD 25.60
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available