D43N (p.Asp43Asn) variant of KMT2C (Q8NEZ4)
D43N (p.Asp43Asn) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD rs1327515855
- Missense
- REVEL 0.38
- CADD 25.10
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)