C1430W (p.Cys1430Trp) variant of KMT2D (O14686)
C1430W (p.Cys1430Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C1430W (p.Cys1430Trp) variant details
- p.Cys1430Trp
- rs2120612017
- ClinGen CA384647417
- ClinVar RCV003590275
- Ensembl rs2120612017
- Likely pathogenic
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.84
- ClinVar: Likely pathogenic (Kabuki syndrome)
- EBI: Likely pathogenic (in KABUK1)
- UniProt: Likely pathogenic (in KABUK1)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)