G38C (p.Gly38Cys) variant of KMT2C (Q8NEZ4)
G38C (p.Gly38Cys) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- Ensembl rs2116821352
- Missense
- REVEL 0.55
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available