R56L (p.Arg56Leu) variant of KMT2C (Q8NEZ4)
R56L (p.Arg56Leu) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- gnomAD rs1403418496
- Likely benign
- Missense
- REVEL 0.39
- CADD 25.40
- PolyPhen-2 0.93
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available