G44S (p.Gly44Ser) variant of KMT2C (Q8NEZ4)
G44S (p.Gly44Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G44S (p.Gly44Ser) variant details
- p.Gly44Ser
- Ensembl rs867040886
- Missense
- REVEL 0.46
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.06
- Population evidence available