P55L (p.Pro55Leu) variant of KMT2C (Q8NEZ4)
P55L (p.Pro55Leu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- TOPMed rs987209809
- Missense
- REVEL 0.37
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.10
- Population evidence available