E5K (p.Glu5Lys) variant of KMT2C (Q8NEZ4)
E5K (p.Glu5Lys) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- cosmic curated COSV51441
- TOPMed rs1002542913
- Missense
- REVEL 0.37
- CADD 24.80
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.8e-05)