P47L (p.Pro47Leu) variant of KMT2C (Q8NEZ4)
P47L (p.Pro47Leu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- gnomAD rs2097910947
- Missense
- REVEL 0.38
- CADD 23.80
- PolyPhen-2 0.91
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)