L3046P (p.Leu3046Pro) variant of KMT2C (Q8NEZ4)
L3046P (p.Leu3046Pro) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple myeloma. The record also includes variant effect predictions.
L3046P (p.Leu3046Pro) variant details
- p.Leu3046Pro
- rs1003155450
- ClinGen CA370076257
- ClinVar RCV000984115
- TOPMed rs1003155450
- Likely pathogenic
- Multiple myeloma
- Missense
- AlphaMissense 0.95
- MetaLR 0.74
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic