L49M (p.Leu49Met) variant of JMJD4 (Q9H9V9)
L49M (p.Leu49Met) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L49M (p.Leu49Met) variant details
- p.Leu49Met
- TOPMed rs1365983730
- gnomAD rs1365983730
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.13
- ESM-1b 0.57
- AlphaMissense 0.33
- MetaLR 0.06
- MetaSVM -1.10
- CADD 21.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available