P17L (p.Pro17Leu) variant of KMT2C (Q8NEZ4)
P17L (p.Pro17Leu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- TOPMed rs1261105602
- gnomAD rs1261105602
- Missense
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.4e-06)