A5413V (p.Ala5413Val) variant of KMT2D (O14686)
A5413V (p.Ala5413Val) 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 0.83 / 1. The record also includes published literature and structural context.
A5413V (p.Ala5413Val) variant details
- p.Ala5413Val
- rs2137706790
- ClinVar RCV004595699
- Ensembl rs2137706790
- Likely pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- MutPred 0.83
- ClinVar: Likely pathogenic (Kabuki syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)