P47H (p.Pro47His) variant of KMT2C (Q8NEZ4)
P47H (p.Pro47His) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P47H (p.Pro47His) variant details
- p.Pro47His
- gnomAD rs2097910947
- Missense
- REVEL 0.40
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available