S46F (p.Ser46Phe) variant of KMT2C (Q8NEZ4)
S46F (p.Ser46Phe) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- Ensembl rs867190035
- Missense
- REVEL 0.43
- CADD 25.70
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available