S8G (p.Ser8Gly) variant of KMT2C (Q8NEZ4)
S8G (p.Ser8Gly) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- Ensembl rs2116822058
- Missense
- REVEL 0.35
- CADD 23.20
- PolyPhen-2 0.64
- SIFT 0.07
- Population evidence available