E4G (p.Glu4Gly) variant of KMT2C (Q8NEZ4)
E4G (p.Glu4Gly) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- gnomAD rs1430028387
- Missense
- REVEL 0.33
- CADD 26.50
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.9e-05)