G38S (p.Gly38Ser) variant of KMT2C (Q8NEZ4)
G38S (p.Gly38Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- Ensembl rs2116821352
- Missense
- REVEL 0.53
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available