E5G (p.Glu5Gly) variant of KMT2C (Q8NEZ4)
E5G (p.Glu5Gly) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- gnomAD rs1345919106
- Missense
- REVEL 0.34
- CADD 26.30
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)