R52G (p.Arg52Gly) variant of KMT2C (Q8NEZ4)
R52G (p.Arg52Gly) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- gnomAD rs1202370478
- Missense
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)