C1158Y (p.Cys1158Tyr) variant of KMT2A (Q03164)
C1158Y (p.Cys1158Tyr) 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. The record also includes variant effect predictions and published literature.
C1158Y (p.Cys1158Tyr) variant details
- p.Cys1158Tyr
- rs1131691503
- ClinGen CA382824835
- cosmic curated COSV63286
- ClinVar RCV000501260
- Pathogenic/Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)