C1448Y (p.Cys1448Tyr) variant of KMT2A (Q03164)
C1448Y (p.Cys1448Tyr) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Wiedemann-Steiner syndrome. The record also includes variant effect predictions and published literature.
C1448Y (p.Cys1448Tyr) variant details
- p.Cys1448Tyr
- rs1085307857
- ClinGen CA382831726
- ClinVar RCV000489772
- ClinVar RCV001376037
- Pathogenic
- not provided; Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (not provided; Wiedemann-Steiner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)