I91L (p.Ile91Leu) variant of KMT2E (Histone reader KMT2E)
I91L (p.Ile91Leu) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I91L (p.Ile91Leu) variant details
- p.Ile91Leu
- rs1013534993
- ClinGen CA368774519
- ClinVar RCV002932906
- TOPMed rs1013534993
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.32
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available