C1448R (p.Cys1448Arg) variant of KMT2A (Q03164)
C1448R (p.Cys1448Arg) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wiedemann-Steiner syndrome. The record also includes variant effect predictions and published literature.
C1448R (p.Cys1448Arg) variant details
- p.Cys1448Arg
- rs863224895
- ClinGen CA279005
- ClinVar RCV000199053
- Ensembl rs863224895
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)