P19L (p.Pro19Leu) variant of KMT2C (Q8NEZ4)
P19L (p.Pro19Leu) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs1043931017
- ClinGen CA169240719
- ClinVar RCV003886947
- TOPMed rs1043931017
- Uncertain significance
- not provided
- Missense
- REVEL 0.42
- CADD 22.60
- PolyPhen-2 0.91
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)