D2037H (p.Asp2037His) variant of KMT2D (O14686)
D2037H (p.Asp2037His) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kabuki syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
D2037H (p.Asp2037His) variant details
- p.Asp2037His
- rs2120552716
- ClinGen CA384626590
- ClinVar RCV001554340
- Ensembl rs2120552716
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.23
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)