K53E (p.Lys53Glu) variant of KMT2C (Q8NEZ4)
K53E (p.Lys53Glu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- Ensembl rs2116821114
- Missense
- REVEL 0.23
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available