E4A (p.Glu4Ala) variant of KMT2C (Q8NEZ4)
E4A (p.Glu4Ala) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
E4A (p.Glu4Ala) variant details
- p.Glu4Ala
- gnomAD rs1430028387
- Missense
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.64
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)