R1154Q (p.Arg1154Gln) variant of KMT2A (Q03164)
R1154Q (p.Arg1154Gln) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Wiedemann-Steiner syndrome. The record also includes variant effect predictions and published literature.
R1154Q (p.Arg1154Gln) variant details
- p.Arg1154Gln
- rs1131691799
- ClinGen CA382824780
- NCI-TCGA Cosmic COSV6328
- cosmic curated COSV63286
- Pathogenic
- Inborn genetic diseases; not provided; Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Wiedemann-Steiner syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)