G44C (p.Gly44Cys) variant of KMT2C (Q8NEZ4)
G44C (p.Gly44Cys) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G44C (p.Gly44Cys) variant details
- p.Gly44Cys
- Ensembl rs867040886
- Missense
- REVEL 0.49
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)