P55S (p.Pro55Ser) variant of KMT2C (Q8NEZ4)
P55S (p.Pro55Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- gnomAD rs2097171770
- Missense
- REVEL 0.37
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.61
- Population evidence available