L2845P (p.Leu2845Pro) variant of KMT2A (Q03164)
L2845P (p.Leu2845Pro) 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.
L2845P (p.Leu2845Pro) variant details
- p.Leu2845Pro
- rs1555047266
- ClinGen CA382814608
- ClinVar RCV000501129
- Ensembl rs1555047266
- Likely pathogenic
- Wiedemann-Steiner syndrome
- Missense
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Wiedemann-Steiner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)