R56G (p.Arg56Gly) variant of KMT2C (Q8NEZ4)
R56G (p.Arg56Gly) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- TOPMed rs1283285486
- gnomAD rs1283285486
- Missense
- REVEL 0.39
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)