Q13R (p.Gln13Arg) variant of KMT2C (Q8NEZ4)
Q13R (p.Gln13Arg) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- TOPMed rs866392536
- gnomAD rs866392536
- Missense
- REVEL 0.19
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the East Asian population (allele frequency 3.2e-05)