P55H (p.Pro55His) variant of KMT2C (Q8NEZ4)
P55H (p.Pro55His) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P55H (p.Pro55His) variant details
- p.Pro55His
- TOPMed rs987209809
- Missense
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)