R50I (p.Arg50Ile) variant of KMT2C (Q8NEZ4)
R50I (p.Arg50Ile) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
R50I (p.Arg50Ile) variant details
- p.Arg50Ile
- TOPMed rs913978315
- gnomAD rs913978315
- Missense
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available