V9I (p.Val9Ile) variant of KMT2E (Histone reader KMT2E)
V9I (p.Val9Ile) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- 1000Genomes rs138858897
- ESP rs138858897
- ExAC rs138858897
- TOPMed rs138858897
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.50
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0068)
- Structural context available