Q11H (p.Gln11His) variant of KMT2C (Q8NEZ4)
Q11H (p.Gln11His) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
Q11H (p.Gln11His) variant details
- p.Gln11His
- TOPMed rs1158616344
- gnomAD rs1158616344
- Missense
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)