R50G (p.Arg50Gly) variant of KMT2C (Q8NEZ4)
R50G (p.Arg50Gly) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- gnomAD rs1387360850
- Missense
- REVEL 0.35
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)