P19H (p.Pro19His) variant of KMT2C (Q8NEZ4)
P19H (p.Pro19His) 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.
P19H (p.Pro19His) variant details
- p.Pro19His
- TOPMed rs1043931017
- gnomAD rs1043931017
- Uncertain significance
- Missense
- REVEL 0.41
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)