D2E (p.Asp2Glu) variant of KMT2D (O14686)
D2E (p.Asp2Glu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- rs1197278365
- ClinGen CA384691482
- ClinVar RCV002720703
- TOPMed rs1197278365
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.59
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Benign (Kabuki syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)