R1154W (p.Arg1154Trp) variant of KMT2A (Q03164)
R1154W (p.Arg1154Trp) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Wiedemann-Steiner syndrome. The record also includes variant effect predictions and published literature.
R1154W (p.Arg1154Trp) variant details
- p.Arg1154Trp
- rs1555038090
- ClinGen CA382824774
- NCI-TCGA Cosmic COSV6329
- cosmic curated COSV63293
- Pathogenic/Likely pathogenic
- not provided; Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wiedemann-Steiner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)