V28I (p.Val28Ile) variant of KMT2E (Histone reader KMT2E)
V28I (p.Val28Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- rs367956492
- ClinGen CA4423613
- NCI-TCGA Cosmic COSV5758
- cosmic curated COSV57582
- Uncertain significance
- O'Donnell-Luria-Rodan syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.44
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (O'Donnell-Luria-Rodan syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: KMT2E-Related Neurodevelopmental Disorder. (PMID 38648332)