Q3061E (p.Gln3061Glu) variant of KMT2C (Q8NEZ4)
Q3061E (p.Gln3061Glu) 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 and population frequency data.
Q3061E (p.Gln3061Glu) variant details
- p.Gln3061Glu
- rs1587941402
- ClinGen CA370076159
- cosmic curated COSV51520
- ClinVar RCV000984093
- Likely pathogenic
- Multiple myeloma
- Missense
- REVEL 0.43
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)