P25L (p.Pro25Leu) variant of KMT2C (Q8NEZ4)
P25L (p.Pro25Leu) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- ExAC rs749087296
- TOPMed rs749087296
- gnomAD rs749087296
- Uncertain significance
- Missense
- REVEL 0.37
- CADD 24.10
- PolyPhen-2 0.91
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)