D43E (p.Asp43Glu) variant of KMT2C (Q8NEZ4)
D43E (p.Asp43Glu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- Ensembl rs2116821271
- Missense
- REVEL 0.40
- CADD 24.40
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)