S1476C (p.Ser1476Cys) variant of KMT2D (O14686)
S1476C (p.Ser1476Cys) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S1476C (p.Ser1476Cys) variant details
- p.Ser1476Cys
- rs1227169455
- ClinGen CA384646181
- ClinVar RCV002250084
- TOPMed rs1227169455
- Pathogenic
- Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.81
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Pathogenic (Kabuki syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)