H1456R (p.His1456Arg) variant of KMT2A (Q03164)
H1456R (p.His1456Arg) 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; not provided. The record also includes variant effect predictions.
H1456R (p.His1456Arg) variant details
- p.His1456Arg
- rs1131691433
- ClinGen CA382831912
- cosmic curated COSV63295
- ClinVar RCV000493938
- Likely pathogenic
- Wiedemann-Steiner syndrome; not provided
- Missense
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic