C1189Y (p.Cys1189Tyr) variant of KMT2A (Q03164)
C1189Y (p.Cys1189Tyr) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Wiedemann-Steiner syndrome. The record also includes variant effect predictions and published literature.
C1189Y (p.Cys1189Tyr) variant details
- p.Cys1189Tyr
- rs1555038125
- ClinGen CA382825264
- ClinVar RCV000626314
- Ensembl rs1555038125
- Pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Wiedemann-Steiner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. (PMID 25810209)