E5V (p.Glu5Val) variant of KMT2C (Q8NEZ4)
E5V (p.Glu5Val) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- gnomAD rs1345919106
- Missense
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.5e-05)