N103K (p.Asn103Lys) variant of JMJD4 (Q9H9V9)
N103K (p.Asn103Lys) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N103K (p.Asn103Lys) variant details
- p.Asn103Lys
- ESP rs373064733
- TOPMed rs373064733
- gnomAD rs373064733
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.33
- MetaSVM -0.54
- CADD 22.30
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available