G2024E (p.Gly2024Glu) variant of KMT2A (Q03164)
G2024E (p.Gly2024Glu) 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. The record also includes variant effect predictions and published literature.
G2024E (p.Gly2024Glu) variant details
- p.Gly2024Glu
- rs1057519403
- ClinGen CA16044387
- ClinVar RCV000417110
- Ensembl rs1057519403
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)