P12R (p.Pro12Arg) variant of KMT2C (Q8NEZ4)
P12R (p.Pro12Arg) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- TOPMed rs1427808282
- gnomAD rs1427808282
- Missense
- REVEL 0.22
- CADD 22.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)