I3926L (p.Ile3926Leu) variant of KMT2A (Q03164)
I3926L (p.Ile3926Leu) 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.
I3926L (p.Ile3926Leu) variant details
- p.Ile3926Leu
- rs1591312430
- ClinGen CA382836331
- ClinVar RCV000988757
- Ensembl rs1591312430
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.42
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic