G1566R (p.Gly1566Arg) variant of KMT2A (Q03164)
G1566R (p.Gly1566Arg) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wiedemann-Steiner syndrome; not provided; Neurodevelopmental disorder. The record also includes variant effect predictions and published literature.
G1566R (p.Gly1566Arg) variant details
- p.Gly1566Arg
- rs2134335014
- ClinGen CA382834221
- ClinVar RCV001374926
- ClinVar RCV003148986
- Likely pathogenic
- Wiedemann-Steiner syndrome; not provided; Neurodevelopmental disorder
- Missense
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.50
- PolyPhen-2 0.98
- SIFT 0.07
- MutPred 0.49
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome; not provided; Neurodevelopmental dis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)