C1155Y (p.Cys1155Tyr) variant of KMT2A (Q03164)
C1155Y (p.Cys1155Tyr) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wiedemann-Steiner syndrome; not provided. The record also includes variant effect predictions and published literature.
C1155Y (p.Cys1155Tyr) variant details
- p.Cys1155Tyr
- rs1057518074
- ClinGen CA16042769
- ClinVar RCV000414422
- ClinVar RCV000824854
- Pathogenic/Likely pathogenic
- Wiedemann-Steiner syndrome; not provided
- Missense
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Wiedemann-Steiner syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)