I5F (p.Ile5Phe) variant of KMT2E (Histone reader KMT2E)
I5F (p.Ile5Phe) 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 O'Donnell-Luria-Rodan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I5F (p.Ile5Phe) variant details
- p.Ile5Phe
- rs891241557
- ClinGen CA164017750
- ClinVar RCV003333420
- TOPMed rs891241557
- Uncertain significance
- O'Donnell-Luria-Rodan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.66
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (O'Donnell-Luria-Rodan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Cited in: KMT2E-Related Neurodevelopmental Disorder. (PMID 38648332)