P12L (p.Pro12Leu) variant of KMT2C (Q8NEZ4)
P12L (p.Pro12Leu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- TOPMed rs1427808282
- gnomAD rs1427808282
- Missense
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.8e-05)