S59G (p.Ser59Gly) variant of KMT2D (O14686)
S59G (p.Ser59Gly) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
S59G (p.Ser59Gly) variant details
- p.Ser59Gly
- rs1555198862
- ClinGen CA384689589
- ClinVar RCV000545685
- ClinVar RCV004537958
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.57
- PolyPhen-2 0.78
- SIFT 0.00
- MutPred 0.20
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)