S46C (p.Ser46Cys) variant of KMT2D (O14686)
S46C (p.Ser46Cys) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- rs2120715696
- ClinGen CA384690127
- ClinVar RCV002222819
- ClinVar RCV003152787
- Uncertain significance
- Kabuki syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.09
- MetaLR 0.37
- MetaSVM -0.57
- PolyPhen-2 0.45
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (Kabuki syndrome 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)