E101K (p.Glu101Lys) variant of JMJD4 (Q9H9V9)
E101K (p.Glu101Lys) 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 0.35 / 1. The record also includes population frequency data and structural context.
E101K (p.Glu101Lys) variant details
- p.Glu101Lys
- cosmic curated COSV59917
- 1000Genomes rs148842395
- ESP rs148842395
- ExAC rs148842395
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.08
- MetaSVM -1.04
- CADD 19.89
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available