G1940E (p.Gly1940Glu) variant of KMT2A (Q03164)
G1940E (p.Gly1940Glu) 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.
G1940E (p.Gly1940Glu) variant details
- p.Gly1940Glu
- rs1950444447
- ClinGen CA382798525
- ClinVar RCV001262256
- Ensembl rs1950444447
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic